MYOBASE LE PORTAIL DOCUMENTAIRE SUR LES MALADIES NEUROMUSCULAIRES

MERRF : Synonym: Myoclonic Epilepsy Associated with Ragged Red Fibers

Velez-Bartolomei F, Lee C, Enns G
GeneReviews® [Internet], 2021

Notice complète Revue : GeneReviews® [Internet] Titre : MERRF : Synonym: Myoclonic Epilepsy Associated with Ragged Red Fibers Type de document : Article Auteurs : Velez-Bartolomei F ; Lee C ; Enns G Année de publication : 07/01/2021 Langues : Anglais (eng) Mots-clés : article de synthèse ; classification des maladies ; conseil génétique ; corrélation génotype-phénotype ; description de la maladie ; diagnostic ; diagnostic différentiel ; MERRF ; myopathie mitochondriale ; prévalence ; prise en charge thérapeutique Résumé : Initial Posting: June 3, 2003; Last Update: January 7, 2021. Clinical characteristics. MERRF (myoclonic epilepsy with ragged red fibers) is a multisystem disorder characterized by myoclonus (often the first symptom) followed by generalized epilepsy, ataxia, weakness, exercise intolerance, and dementia. Onset can occur from childhood to adulthood, occurring after normal early development. Common findings are ptosis, hearing loss, short stature, optic atrophy, cardiomyopathy, cardiac dysrhythmias such as Wolff-Parkinson-White syndrome, and peripheral neuropathy. Pigmentary retinopathy, optic neuropathy, diabetes mellitus, and lipomatosis have been observed. Diagnosis/testing. A clinical diagnosis of MERRF can be established in a proband with the following four "canonic" features: myoclonus, generalized epilepsy, ataxia, and ragged red fibers (RRF) in the muscle biopsy. A molecular diagnosis is established in a proband with suggestive findings and a pathogenic variant in one of the genes associated with MERRF. The m.8344A>G pathogenic variant in the mitochondrial gene MT-TK is present in more than 80% of affected individuals with typical findings. Pathogenic variants in MT-TF, MT-TH, MT-TI, MT-TL1, MT-TP, MT-TS1, and MT-TS2 have also been described in a subset of individuals with MERRF. Management. Treatment of manifestations: Ubiquinol, carnitine, alpha lipoic acid, vitamin E, vitamin B complex, and creatine may be of benefit to some individuals; traditional anticonvulsant therapy per neurologist for seizures; levetiracetam or clonazepam for myoclonus; physical therapy to improve any impaired motor function; aerobic exercise; standard pharmacologic therapy for cardiac symptoms; hearing aids or cochlear implants for hearing loss; diabetes mellitus treatment per endocrinologist. Prevention of primary manifestations: Coenzyme Q10 (50-200 mg 2-3x/day), L-carnitine (1000 mg 2-3x/day), alpha lipoic acid, vitamin E, vitamin B supplements, and creatine, often used to improve mitochondrial function, have been of modest benefit in some individuals. Doses for children should be adjusted appropriately. Surveillance: Routine evaluations every six to 12 months initially; annual neurologic, ophthalmologic, cardiology (electrocardiogram and echocardiogram), and endocrinologic evaluations (fasting blood sugar and TSH); audiology evaluations every two to three years. Agents/circumstances to avoid: Mitochondrial toxins (e.g., aminoglycoside antibiotics, linezolid, cigarettes, alcohol); valproic acid should be avoided in the treatment of seizures. Pregnancy management: During pregnancy, affected or at-risk women should be monitored for diabetes mellitus and respiratory insufficiency, which may require therapeutic interventions. Genetic counseling. MERRF is caused by pathogenic variants in mtDNA and is transmitted by maternal inheritance. The father of a proband is not at risk of having the mtDNA pathogenic variant. The mother of a proband usually has the mtDNA pathogenic variant and may or may not have symptoms. A male with a mtDNA pathogenic variant cannot transmit the pathogenic variant to any of his offspring. A female with a mtDNA pathogenic variant (whether symptomatic or asymptomatic) transmits the pathogenic variant to all of her offspring. Prenatal testing and preimplantation genetic testing for MERRF are possible if a mtDNA pathogenic variant has been detected in the mother. However, because the mutational load in embryonic and fetal tissues sampled (i.e., amniocytes and chorionic villi) may not correspond to that of all fetal tissues and because the mutational load in tissues sampled prenatally may shift in utero or after birth as a result of random mitotic segregation, prediction of the phenotype from prenatal studies is not possible. Lien associé : Texte complet disponible en accès libre sur Bookshelf GeneReviews® Pubmed / DOI : Pubmed : 20301693

Avis des lecteurs Aucun avis, ajoutez le vôtre !

Votre note : (mauvais) 15 (excellent)

Sujet

Avis

Vous pouvez associer ce commentaire à une liste :
Uniquement pour soi

 

Spinal Muscular Atrophy

Prior TW, Leach ME, Finanger E
GeneReviews® [Internet], 2020

Notice complète Revue : GeneReviews® [Internet] Titre : Spinal Muscular Atrophy Type de document : Article Auteurs : Prior TW ; Leach ME ; Finanger E Année de publication : 3/12/2020 Langues : Anglais (eng) Mots-clés : amyotrophie spinale ; amyotrophie spinale proximale (type 0) ; amyotrophie spinale proximale (type I) ; amyotrophie spinale proximale (type II) ; amyotrophie spinale proximale adulte (type IV) ; amyotrophie spinale proximale liée à SMN1 ; amyotrophie spinale proximale type 3 ; article de synthèse ; classification des maladies ; conseil génétique ; corrélation génotype-phénotype ; description de la maladie ; diagnostic ; diagnostic différentiel ; diagnostic moléculaire ; épidémiologie ; maladie du motoneurone ; maladie neuromusculaire ; prévalence ; prise en charge thérapeutique Résumé : Initial Posting: February 24, 2000; Last Revision: December 3, 2020. Clinical characteristics. Spinal muscular atrophy (SMA) is characterized by muscle weakness and atrophy resulting from progressive degeneration and irreversible loss of the anterior horn cells in the spinal cord (i.e., lower motor neurons) and the brain stem nuclei. The onset of weakness ranges from before birth to adulthood. The weakness is symmetric, proximal > distal, and progressive. Before the genetic basis of SMA was understood, it was classified into clinical subtypes based on maximum motor function achieved; however, it is now apparent that the phenotype of SMN1-associated SMA spans a continuum without clear delineation of subtypes. With supportive care only, poor weight gain with growth failure, restrictive lung disease, scoliosis, and joint contractures are common complications; however, newly available targeted treatment options are changing the natural history of this disease. Diagnosis/testing. The diagnosis of SMA is established in a proband with a history of motor difficulties or regression, proximal muscle weakness, reduced/absent deep tendon reflexes, evidence of motor unit disease, AND/OR by the identification of biallelic pathogenic variants in SMN1 on molecular genetic testing. Increases in SMN2 copy number often modify the phenotype. Management. Treatment of manifestations: Therapies targeted to the underlying disease mechanism include nusinersen (Spinraza®; an antisense oligonucleotide) for the treatment of all types of SMA and onasemnogene abeparvovec-xioi (Zolgensma®; gene replacement therapy) for the treatment of type I SMA. These targeted treatments may prevent the development or slow the progression of some features of SMA; efficacy is improved when treatment is initiated before symptom onset. It is unclear what the long-term effect of these treatments will be or if new phenotypes will arise in treated individuals. Proactive supportive treatment by a multidisciplinary team is essential to reduce symptom severity, particularly in the most severe cases of SMA. When nutrition or dysphagia is a concern, placement of a gastrostomy tube early in the course of the disease is appropriate. Standard therapy for gastroesophageal reflux disease and chronic constipation. Formal consultation and frequent follow up with a pulmonologist familiar with SMA is necessary. As respiratory function deteriorates, tracheotomy or noninvasive respiratory support may be offered. Surgical repair for scoliosis should be considered based on progression of the curvature, pulmonary function, and bone maturity. Surgical intervention for hip dislocation for those with pain. Surveillance: Presymptomatic individuals require monitoring for the development of symptoms to determine appropriate timing to initiate targeted and/or supportive therapies. Multidisciplinary evaluation every six months or more frequently for weaker children is indicated to assess nutritional state, respiratory function, motor function, and orthopedic status, and to determine appropriate interventions. Agents/circumstances to avoid: Prolonged fasting, particularly in the acutely ill infant with SMA. Evaluation of relatives at risk: It is appropriate to determine the genetic status of younger, apparently asymptomatic sibs of an affected individual in order to identify as early as possible those who would benefit from prompt initiation of targeted treatment. Genetic counseling. SMA is inherited in an autosomal recessive manner. Each pregnancy of a couple who have had a child with SMA has an approximately 25% chance of producing an affected child, an approximately 50% chance of producing an asymptomatic carrier, and an approximately 25% chance of producing an unaffected child who is not a carrier. These recurrence risks deviate slightly from the norm for autosomal recessive inheritance because about 2% of affected individuals have a de novo SMN1 variant on one allele; in these instances, only one parent is a carrier of an SMN1 variant, and thus the sibs are not at increased risk for SMA. Carrier testing for at-risk relatives and prenatal testing for pregnancies at increased risk are possible if the diagnosis of SMA has been confirmed by molecular genetic testing in an affected family member. Lien associé : Texte complet disponible en accès libre sur Bookshelf GeneReviews® Pubmed / DOI : Pubmed : 20301526

Avis des lecteurs Aucun avis, ajoutez le vôtre !

Votre note : (mauvais) 15 (excellent)

Sujet

Avis

Vous pouvez associer ce commentaire à une liste :
Uniquement pour soi

 

Myotonic Dystrophy Type 1 : Synonym: Steinert's Disease

Bird TD
GeneReviews® [Internet], 2020

Notice complète Revue : GeneReviews® [Internet] Titre : Myotonic Dystrophy Type 1 : Synonym: Steinert's Disease Type de document : Article Auteurs : Bird TD Année de publication : 29/10/2020 Langues : Anglais (eng) Mots-clés : article de synthèse ; conseil génétique ; corrélation génotype-phénotype ; description de la maladie ; diagnostic ; diagnostic différentiel ; dystrophie myotonique ; dystrophie myotonique de type 1 ; épidémiologie ; génétique moléculaire ; maladie neuromusculaire ; physiopathologie ; prévalence ; prise en charge thérapeutique ; syndrome myotonique Résumé : Initial Posting: September 17, 1999; Last Revision: October 29, 2020. Clinical characteristics. Myotonic dystrophy type 1 (DM1) is a multisystem disorder that affects skeletal and smooth muscle as well as the eye, heart, endocrine system, and central nervous system. The clinical findings, which span a continuum from mild to severe, have been categorized into three somewhat overlapping phenotypes: mild, classic, and congenital. Mild DM1 is characterized by cataract and mild myotonia (sustained muscle contraction); life span is normal. Classic DM1 is characterized by muscle weakness and wasting, myotonia, cataract, and often cardiac conduction abnormalities; adults may become physically disabled and may have a shortened life span. Congenital DM1 is characterized by hypotonia and severe generalized weakness at birth, often with respiratory insufficiency and early death; intellectual disability is common. Diagnosis/testing. DM1 is caused by expansion of a CTG trinucleotide repeat in the noncoding region of DMPK. The diagnosis of DM1 is suspected in individuals with characteristic muscle weakness and is confirmed by molecular genetic testing of DMPK. CTG repeat length exceeding 34 repeats is abnormal. Molecular genetic testing detects pathogenic variants in nearly 100% of affected individuals. Management. Treatment of manifestations: Use of ankle-foot orthoses, wheelchairs, or other assistive devices; special education support for affected children; treatment of hypothyroidism; management of pain; consultation with a cardiologist for symptoms or ECG evidence of arrhythmia; removal of cataracts if vision is impaired; hormone replacement therapy for males with hypogonadism; surgical excision of pilomatrixoma and basal cell carcinomas. Prevention of secondary complications: Choice of induction agents, airway care, local anesthesia, and neuromuscular blockade to minimize complications during surgery; cardiac pacemakers or implantable cardioverter-defibrillators may prevent life-threatening arrhythmias; continue physical activity and maintain appropriate weight. Surveillance: Annual ECG or 24-hour Holter monitoring; annual measurement of fasting serum glucose concentration and glycosylated hemoglobin concentration; ophthalmology examination every two years; attention to nutritional status; polysomnography for sleep disturbances. Agents/circumstances to avoid: Cholesterol-lowering medications (i.e., statins), which can cause muscle pain and weakness; the anesthetic agent vecuronium; succinylcholine, propofol, and doxorubicin; smoking; obesity; illicit drug use; excessive alcohol intake. Evaluation of relatives at risk: Molecular genetic testing for early diagnosis of relatives at risk to allow treatment of cardiac manifestations, diabetes mellitus, and cataracts. Genetic counseling. DM1 is inherited in an autosomal dominant manner. Offspring of an affected individual have a 50% chance of inheriting the expanded allele. Pathogenic alleles may expand in length during gametogenesis, resulting in the transmission of longer trinucleotide repeat alleles that may be associated with earlier onset and more severe disease than that observed in the parent. Prenatal testing and preimplantation genetic testing are possible when the diagnosis of DM1 has been confirmed by molecular genetic testing in an affected family member. Lien associé : Texte complet disponible en accès libre sur Bookshelf GeneReviews® Pubmed / DOI : Pubmed : 20301344

Avis des lecteurs Aucun avis, ajoutez le vôtre !

Votre note : (mauvais) 15 (excellent)

Sujet

Avis

Vous pouvez associer ce commentaire à une liste :
Uniquement pour soi

 

Oculopharyngeal Muscular Dystrophy : Synonym: OPMD

Trollet C, Boulinguiez A, Roth F, et al.
GeneReviews® [Internet], 2020

Notice complète Revue : GeneReviews® [Internet] Titre : Oculopharyngeal Muscular Dystrophy : Synonym: OPMD Type de document : Article Auteurs : Trollet C ; Boulinguiez A ; Roth F ; Stojkovic T ; Butler-Browne G ; Evangelista T ; Lacau St Guily J ; Richard P Année de publication : 22/10/2020 Langues : Anglais (eng) Mots-clés : article de synthèse ; conseil génétique ; corrélation génotype-phénotype ; description de la maladie ; diagnostic ; diagnostic différentiel ; dystrophie musculaire ; dystrophie musculaire oculopharyngée ; épidémiologie ; maladie neuromusculaire ; physiopathologie ; prévalence ; prise en charge thérapeutique Résumé : Initial Posting: March 8, 2001; Last Update: October 22, 2020. Clinical characteristics. Oculopharyngeal muscular dystrophy (OPMD) is characterized by ptosis and dysphagia due to selective involvement of the muscles of the eyelids and pharynx, respectively. For the vast majority of individuals with typical OPMD, the mean age of onset of ptosis is usually 48 years and of dysphagia 50 years; in 5%-10% of individuals with severe OPMD, onset of ptosis and dysphagia occur before age 45 years and is associated with lower limb girdle weakness starting around age 60 years. Swallowing difficulties, which determine prognosis, increase the risk for potentially life-threatening aspiration pneumonia and poor nutrition. Other manifestations as the disease progresses can include limitation of upward gaze, tongue atrophy and weakness, chewing difficulties, wet voice, facial muscle weakness, axial muscle weakness, and proximal limb girdle weakness predominantly in lower limbs. Some individuals with severe involvement will eventually need a wheelchair. Neuropsychological tests have shown altered scores in executive functions in some. Diagnosis/testing. The diagnosis of OPMD is established in a proband with a suggestive phenotype in whom either of the following genetic findings are identified: a heterozygous GCN trinucleotide repeat expansion of 11 to 18 repeats in the first exon of PABPN1 (~90% of affected individuals) or biallelic GCN trinucleotide repeat expansions that are either compound heterozygous (GCN[11] with a second expanded allele) or homozygous (GCN[11]+[11], GCN[12]+[12], GCN[13]+[13], etc.) (~10% of affected individuals). Management. Treatment of manifestations: Treatment for ptosis may include blepharoplasty by either resection of the levator palpebrea aponeurosis or frontal suspension of the eyelids. The initial treatment for dysphagia is dietary modification; surgical intervention for dysphagia should be considered when symptomatic dysphagia has a significant impact on quality of life. Physical and occupational therapy are encouraged; assistive devices may be necessary to prevent falls and assist with walking and mobility. Neuropsychological support as needed. Surveillance: Routine evaluation of: neuromuscular and oculomotor involvement; dysphagia including nutritional status and diet; respiratory function given the increased risk for both aspiration and nocturnal hypoventilation; and cognitive function including development of psychiatric symptoms. Genetic counseling. OPMD is inherited in an autosomal dominant manner. The risk to sibs of a proband depends on the genetic status of the parents of the proband: If one parent of a proband is heterozygous for a GCN repeat expansion in PABPN1 (GCN[11_18]+ [10]) and the other parent has two normal alleles (GCN[10]+[10]), the risk to the sibs of inheriting a GCN repeat expansion is 50%. If both parents of the proband are heterozygous for a GCN repeat expansion, sibs have a 25% risk of inheriting two GCN repeat expansions and a 50% risk of inheriting one GCN repeat expansion. If one parent of the proband has biallelic GCN repeat expansions and the other parent has two normal alleles, all sibs will inherit a GCN repeat expansion. If one parent of the proband has biallelic GCN repeat expansions and the other parent is heterozygous for a GCN repeat expansion, sibs of the proband have a 50% risk of inheriting biallelic GCN repeat expansions and 50% risk of inheriting one GCN repeat expansion. Sibs who inherit either one or two GCN repeat expansions will be affected. Lien associé : Texte complet disponible en accès libre sur Bookshelf GeneReviews® Pubmed / DOI : Pubmed : 20301305

Avis des lecteurs Aucun avis, ajoutez le vôtre !

Votre note : (mauvais) 15 (excellent)

Sujet

Avis

Vous pouvez associer ce commentaire à une liste :
Uniquement pour soi

 

Autosomal Dominant TRPV4 Disorders

McCray BA, Schindler A, Hoover-Fong JE, et al.
GeneReviews® [Internet], 2020

Notice complète Revue : GeneReviews® [Internet] Titre : Autosomal Dominant TRPV4 Disorders Type de document : Article Auteurs : McCray BA ; Schindler A ; Hoover-Fong JE ; Sumner CJ Année de publication : 17/09/2020 Langues : Anglais (eng) Mots-clés : amyotrophie spinale ; amyotrophie spinale distale ; article de synthèse ; CMT2C ; conseil génétique ; corrélation génotype-phénotype ; description de la maladie ; diagnostic ; diagnostic différentiel ; grossesse ; maladie de Charcot-Marie-Tooth ; neuropathie scapulopéronière ; physiopathologie ; prise en charge thérapeutique ; suivi medical ; TRPV4 (maladie neuromusculaire liée à) Résumé : Initial Posting: May 15, 2014; Last Update: September 17, 2020. Clinical characteristics. The autosomal dominant TRPV4 disorders (previously considered to be clinically distinct phenotypes before their molecular basis was discovered) are now grouped into neuromuscular disorders and skeletal dysplasias; however, the overlap within each group is considerable. Affected individuals typically have either neuromuscular or skeletal manifestations alone, and in only rare instances an overlap syndrome has been reported. The three autosomal dominant neuromuscular disorders (mildest to most severe) are: Charcot-Marie-Tooth disease type 2C Scapuloperoneal spinal muscular atrophy Congenital distal spinal muscular atrophy The autosomal dominant neuromuscular disorders are characterized by a congenital-onset, static, or later-onset progressive peripheral neuropathy with variable combinations of laryngeal dysfunction (i.e., vocal fold paresis), respiratory dysfunction, and joint contractures. The six autosomal dominant skeletal dysplasias (mildest to most severe) are: Familial digital arthropathy-brachydactyly Autosomal dominant brachyolmia Spondylometaphyseal dysplasia, Kozlowski type Spondyloepiphyseal dysplasia, Maroteaux type Parastremmatic dysplasia Metatropic dysplasia The skeletal dysplasia is characterized by brachydactyly (in all 6); the five that are more severe have short stature that varies from mild to severe with progressive spinal deformity and involvement of the long bones and pelvis. In the mildest of the autosomal dominant TRPV4 disorders life span is normal; in the most severe it is shortened. Bilateral progressive sensorineural hearing loss (SNHL) can occur with both autosomal dominant neuromuscular disorders and skeletal dysplasias. Diagnosis/testing. The diagnosis of an autosomal dominant TRPV4 disorder is established in a proband with characteristic clinical and neurophysiologic findings, radiographic findings in the skeletal dysplasias, and a heterozygous TRPV4 pathogenic variant identified on molecular genetic testing. Management. Treatment of manifestations: Treatment is focused on symptom management. Affected individuals are often evaluated and managed by a multidisciplinary team that may include neurologists, physiatrists, orthopedic surgeons, and physical and occupational therapists. SNHL is managed by specialists to determine the best management options. For neuromuscular disorders, neuropathy and respiratory dysfunction are managed in a routine manner; individuals with laryngeal dysfunction require ENT evaluation that should include speech therapy, laryngoscopy, and, in some instances, surgery. For skeletal dysplasias, physical therapy/exercise and heel-cord stretching to maintain function; surgical intervention when kyphoscoliosis compromises pulmonary function and/or causes pain and/or when upper cervical spine instability and/or cervical myelopathy are present. Surveillance: For neuromuscular disorders, annual neurologic examinations, physical therapy assessments, ENT monitoring of laryngeal function, dynamic breathing chest x-ray, and hearing assessment. For skeletal dysplasias, annual evaluation for joint pain and scoliosis; assessment for odontoid hypoplasia before a child reaches school age and before surgical procedures involving general anesthesia; annual hearing assessment. Agents/circumstances to avoid: For neuromuscular disorders, obesity, as it makes walking more difficult; diabetes; medications that are toxic or potentially toxic to persons with a peripheral neuropathy. For skeletal dysplasias, extreme neck flexion and extension (in those with odontoid hypoplasia); activities that place undue stress on the spine and weight-bearing joints. Pregnancy management: Ideally a woman with TRPV4 disorder would seek consultation from a high-risk OB-GYN or maternal-fetal medicine specialist to evaluate risk associated with pregnancy and delivery. Genetic counseling. TRPV4 disorders are inherited in an autosomal dominant manner. Most individuals diagnosed with an autosomal dominant TRPV4 disorder have an affected parent. However, since the most severe skeletal phenotypes can be lethal in childhood (or in utero), children with these phenotypes likely have a de novo pathogenic variant and unaffected parents. Each child of an individual with an autosomal dominant TRPV4 disorder has a 50% chance of inheriting the pathogenic variant. Specific phenotype, age of onset, and disease severity cannot be predicted accurately because of reduced penetrance and variable expressivity. However, in general, a child who inherits a TRPV4 pathogenic variant associated with neuromuscular disease or skeletal dysplasia from an affected parent is likely to have the same phenotype as the parent. Prenatal and preimplantation genetic testing are possible if the pathogenic variant has been identified in an affected family member. Lien associé : Texte complet disponible en accès libre sur Bookshelf GeneReviews® Pubmed / DOI : Pubmed : 24830047

Avis des lecteurs Aucun avis, ajoutez le vôtre !

Votre note : (mauvais) 15 (excellent)

Sujet

Avis

Vous pouvez associer ce commentaire à une liste :
Uniquement pour soi

 

GBE1 Adult Polyglucosan Body Disease

Akman HO, Lossos A, Kakhlon O
GeneReviews® [Internet], 2020

Permalink

LAMA2 Muscular Dystrophy : Synonym: Laminin α2 Chain-Deficiency

Oliveira J, Parente Freixo J, Santos M, et al.
GeneReviews® [Internet], 2020

Permalink

Hereditary Neuropathy with Liability to Pressure Palsies : Synonym: HNPP

Chrestian N
GeneReviews® [Internet], 2020

Permalink

Barth Syndrome

Ferreira C, Pierre G, Thompson R, et al.
GeneReviews® [Internet], 2020

Permalink

Multiple Acyl-CoA Dehydrogenase Deficiency : Synonyms: Electron Transfer Flavoprotein Dehydrogenase Deficiency, Glutaric Acidemia II, Glutaric Aciduria II, MADD

Prasun P
GeneReviews® [Internet], 2020

Permalink

MFN2 Hereditary Motor and Sensory Neuropathy : Synonyms: MFN2 Charcot-Marie-Tooth Neuropathy, MFN2-HMSN

Züchner S
GeneReviews® [Internet], 2020

Permalink

Mieux décrire la SMALED2 pour mieux la prendre en charge

Bichat M
2020

Permalink

Facioscapulohumeral Muscular Dystrophy : Synonym: FSH Muscular Dystrophy

Preston MK, Tawil R, Wang LH
GeneReviews® [Internet], 2020

Permalink

The genotypic and phenotypic spectrum of BICD2 variants in spinal muscular atrophy

Koboldt DC, Waldrop MA, Wilson RK, et al.
Annals of neurology, 2020

Permalink

Clinical and pathological characterization of FLNC-related myofibrillar myopathy caused by founder variant c.8129G>A in Hong Kong Chinese

Lee HH, Wong S, Sheng B, et al.
Clinical genetics, 2020

Permalink

Clinical features of collagen VI-related dystrophies: A large Brazilian cohort

Zanoteli E, Soares PS, Silva AMSD, et al.
Clinical neurology and neurosurgery, 2020, 192

Permalink

The clinical spectrum of BICD2 mutations

Frasquet M, Camacho A, Vilchez R, et al.
European journal of neurology, 2020

Permalink

Transmission characteristics of SMN from 227 spinal muscular atrophy core families in China

Cao Y, Qu Y, Bai J, et al.
Journal of human genetics, 2020

Permalink

Identification of two novel variants in GAA underlying infantile-onset Pompe disease in two Pakistani families

Ullah A, Zubaida B, Cheema HA, et al.
Journal of pediatric endocrinology & metabolism : JPEM, 2020

Permalink

Malignant Hyperthermia Susceptibility : Synonym: Malignant Hyperpyrexia

Rosenberg H, Sambuughin N, Riazi S, et al.
GeneReviews® [Internet], 2020

Permalink

Novel Recessive TNNT1 Congenital Core-Rod Myopathy in French Canadians

Pellerin D, Aykanat A, Ellezam B, et al.
Annals of neurology, 2020

Permalink

Multisystem mitochondrial diseases due to mutations in mtDNA-encoded subunits of complex I

Danhelovska T, Kolarova H, Zeman J, et al.
BMC Pediatrics, 2020, 20, 1, p 41

Permalink

Novel candidate alleles associated with gene regulation for Emery-Dreifuss muscular dystrophy

Xiong H
EBiomedicine, 2020, 52

Permalink

TCTEX1D1 is a genetic modifier of disease progression in Duchenne muscular dystrophy

Spitali P, Zaharieva I, Böhringer S, et al.
European journal of human genetics : EJHG, 2020

Permalink

Longitudinal follow-up of verbal span and processing speed in Duchenne muscular dystrophy

Hellebrekers DMJ, Doorenweerd N, Sweere DJJ, et al.
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society, 2020

Permalink