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 > MYOBASE > BIOLOGIE > biologie par discipline > génétique > génétique formelle > mutation génétique > mutation ponctuelle > mutation faux-sens
mutation faux-sens
Commentaire :
Mutation ponctuelle dans un codon aboutissant à une substitution d'acide aminé dans la chaîne polypeptidique codée. (07/12/2006)
Synonyme(s)mutation contresens ;mutation contre-sens missense mutations |
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Different outcome of sarcoglycan missense mutation between human and mouse
Henriques SF, Patissier C, Bourg N, et al.
PLoS ONE, 2018, 13, 1
A Novel Missense Variant in the AGRN Gene; Congenital Myasthenic Syndrome Presenting With Head Drop
Karakaya M, Ceyhan-Birsoy O, Beggs AH, et al.
Journal of clinical neuromuscular disease, 2017, 18, 3, p 147
A novel COL12A1 variant expands the clinical picture of congenital myopathies with extracellular matrix defects
Punetha J, Kesari A, Hoffman EP, et al.
Muscle & Nerve, 2017, 55, 2, p 277
SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome
Shaw ND, Brand H, Kupchinsky ZA, et al.
Nature genetics, 2017, 49, 2, p 238
Collagénopathies et maladies neuromusculaires : confirmation de l’implication du gène COL12A1
Urtizberea JA
2016
Myopathies des ceintures : le séquençage à haut débit a permis d’identifier un nouveau gène, le gène POPCD1
Urtizberea JA
2016
Myology 2016 : 5th International Congress of Myology ; Posters n° 238 to 255 - Limb girdle muscular dystrophies / OPMD
Congrès : 5th International Congress of Myology (14-18 March 2016; Centre convention, Lyon, France)
2016, p. 137-146
Myology 2016 : 5th International Congress of Myology ; Posters n° 256 to 274 - Miscellaneous
Congrès : 5th International Congress of Myology (14-18 March 2016; Centre convention, Lyon, France)
2016, p. 146-156
Impaired Presynaptic High-Affinity Choline Transporter Causes a Congenital Myasthenic Syndrome with Episodic Apnea
Bauché S, O'Regan S, Azuma Y, et al.
American journal of human genetics, 2016, 99, 3, p 753
Rare Variants in MME, Encoding Metalloprotease Neprilysin, Are Linked to Late-Onset Autosomal-Dominant Axonal Polyneuropathies
Auer-Grumbach M, Toegel S, Schabhüttl M, et al.
American journal of human genetics, 2016, 99, 3, p 607
Spinal muscular atrophy with respiratory distress syndrome (SMARD1): Case report and review of literature
Lingappa L, Shah N, Motepalli AS, et al.
Annals of Indian academy of neurology, 2016, 19, 3, p 395
GNE Myopathy in Turkish Sisters with a Novel Homozygous Mutation
Diniz G, Secil Y, Ceylaner S, et al.
Case reports in neurological medicine, 2016, 2016
SLC52A2 [p.P141T] and SLC52A3 [p.N21S] causing Brown-Vialetto-Van Laere Syndrome in an Indian patient: First genetically proven case with mutations in two riboflavin transporters
Udhayabanu T, Subramanian VS, Teafatiller T, et al.
Clinica chimica acta; international journal of clinical chemistry, 2016, 462, p 210
A Novel Missense Mutation in CLCN1 Gene in a Family with Autosomal Recessive Congenital Myotonia
Miryounesi M, Ghafouri-Fard S, Fardaei M
Iranian journal of medical sciences, 2016, 41, 5, p 456
Brown-Vialetto-Van Laere syndrome: a 28-year follow-up
Davis A, Josifova D, Lloyd-Oven S, et al.
Journal of neurology, neurosurgery and psychiatry, 2016, 87, 6, p 681
Brown-Vialetto-Van Laere syndrome: two siblings with a new mutation and dramatic therapeutic effect of high-dose riboflavin
Horoz OO, Mungan NO, Yildizdas D, et al.
Journal of pediatric endocrinology and metabolism, 2016, 29, 2, p 227
The phenotypic spectrum of fifty Czech m.3243A>G carriers
Dvorakova V, Kolarova H, Magner M, et al.
Molecular genetics and metabolism, 2016, 118, 4, p 288
A milder phenotype of megaconial congenital muscular dystrophy due to a novel CHKB mutation
de Fuenmayor-Fernandez de la Hoz CP, Dominguez-Gonzalez C, Gonzalo-Martinez JF, et al.
Muscle & Nerve, 2016, 54, 4, p 806
Severe defect in mitochondrial complex I assembly with mtDNA deletions in ACAD9-deficient mild myopathy
Fragaki K, Chaussenot A, Boutron A, et al.
Muscle & Nerve, 2016, 55, 6, p 919
Rare variants in SQSTM1 and VCP genes and risk of sporadic inclusion body myositis
Gang Q, Bettencourt C, Machado PM, et al.
Neurobiology of aging, 2016, 47, p 218.e1
Cardiac involvement in hereditary myopathy with early respiratory failure: A cohort study
Steele HE, Harris E, Barresi R, et al.
Neurology, 2016, 87, 10, p 1031
A novel neuromuscular form of glycogen storage disease type IV with arthrogryposis, spinal stiffness and rare polyglucosan bodies in muscle
Malfatti E, Barnerias C, Hedberg-Oldfors C, et al.
Neuromuscular disorders : NMD, 2016, 26, 10, p 681
CAV3 mutations causing exercise intolerance, myalgia and rhabdomyolysis: Expanding the phenotypic spectrum of caveolinopathies
Scalco RS, Gardiner AR, Pitceathly RD, et al.
Neuromuscular disorders : NMD, 2016, 26, 8, p 504
MYH7-related myopathies: clinical, histopathological and imaging findings in a cohort of Italian patients
Fiorillo C, Astrea G, Savarese M, et al.
Orphanet journal of rare diseases, 2016, 11, 1, p 91
