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Auteur Leonardis L
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Alonso-Perez J, Gonzalez-Quereda L, Bello L, et al.
Brain : a journal of neurology, 2020, 143, 9, p 2696
Acta neurologica Scandinavica, 2017, 135, 5, p 568
Revue : Acta neurologica Scandinavica, 135, 5 Titre : Peripheral neuropathy in patients with myotonic dystrophy type 2 Type de document : Article Auteurs : Leonardis L, Auteur Année de publication : 2017 Pages : p 568 Langues : Anglais (eng) Mots-clés : atteinte musculaire neurogène ; démyélinisation ; dystrophie myotonique de type 2 ; étude de cas ; étude de cohorte ; nerf moteur ; nerf sensitif ; neuropathie motrice ; neuropathie sensitive ; neuropathie sensitivomotrice ; polyneuropathie ; prévalence ; Slovénie ; vitesse de conduction nerveuse Pubmed / DOI : DOI : 10.1111/ane.12635 / Pubmed : 27401721 En ligne : http://www.ncbi.nlm.nih.gov/pubmed/27401721Leonardis L, Blagus R, Dolenc Groselj L
Acta neurologica Scandinavica, 2015, 132, 1, p 42
Revue : Acta neurologica Scandinavica, 132, 1 Titre : Sleep and breathing disorders in myotonic dystrophy type 2 Type de document : Article Auteurs : Leonardis L ; Blagus R ; Dolenc Groselj L Année de publication : 2015 Pages : p 42 Langues : Anglais (eng) Mots-clés : apnée ; conduction nerveuse ; diaphragme ; dystrophie myotonique de type 2 ; étude observationnelle ; nerf phrénique ; polysomnographie ; trouble du sommeil ; trouble respiratoire Pubmed / DOI : DOI : 10.1111/ane.12355 / Pubmed : 25496235 En ligne : http://www.ncbi.nlm.nih.gov/pubmed/25496235Leonardis L, de Greef J, Lemmers R
Congrès : 4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France))
2011, p. 160
Titre : The phenotype of patients with potential facioscapulo humeral muscular dystrophy type 2 Type de document : Article Auteurs : de Greef J ; Lemmers R Congrès : 4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) Editeur : AFM-TELETHON Année de publication : 2011 Pages : p. 160 Langues : Anglais (eng) Mots-clés : muscle orbiculaire de l'oeil Résumé : Facioscapulohumeral muscular dystrophy (FSHD) is linked in more than 95% of cases to D4Z4 repeat contraction on chromosome 4q35 (FSHD1). In patients with a typical clinical presentation but without D4Z4 repeat deletions, loss of DNA methylation can be the cause. These patients are defined as FSHD2. We retrospectively identified patients with FSHD2 from our registry and described their phenotype. Ninety-nine out of 108 patients with a clinical diagnosis of FSHD carried the D4Z4 deletion. For seven patients without a D4Z4 deletion we repeated genetic analysis. The repeat sizes and methylation levels of the D4Z4 arrays were tested on both chromosome 4q alleles and chromosome 10q alleles by Southern blot analysis. For chromosome 4q three different CpG dinucleotides were studied with three methylationsensitive restriction enzymes (BsaAI, FseI, CpoI) and for chromosome 10q CpoI was used.In one patient (1/7) we confirmed FSHD1. Three (3/7) patients were potentially FSHD2. They represented 3% from all patients with a FSHD phenotype. Three (3/7) patients were neither FSHD1 nor FSHD2. All three patients with potential FSHD2 were sporadic cases. In two patients the first symptoms were facial and shoulder weakness, while in the third patient it was knee extension weakness. The disease started on average at the age of 40 years. During the disease course all patients developed asymmetric shoulder girdle weakness, two facial, two upper arm, one abdominal, two foot dorsiflexors' and all three pelvic girdle muscle weakness. One patient had asymmetry in orbicularis oris. None had weakness of the external ocular muscles, dysphagia, tongue weakness or hearing loss. One patient had arrhythmia but no cardiomyopathy. One patient had 16-times increased serum CK activity, while in the other two patients the increase was only mild. All had myopathic EMG and non-specific myopathic changes in muscle biopsy. The disease was slowly progressive, but one patient became wheelchair bound. Two patients fulfilled the FSHD clinical criteria (European Neuromuscular Centre, 1997), while in one patient the pattern is more of asymmetric involvement of limb-girdle.In conclusion, the phenotype of potential FSHD2 seems indistinguishable from FSHD1.
Specificity of electromyographic exercise tests for differentiation between the involved ion channels and types of mutations in inherited muscle channelopathies and in myotonic dystrophy type 2Leonardis L, Zidar J
Congrès : Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France)
2008, p. 593
Titre : Specificity of electromyographic exercise tests for differentiation between the involved ion channels and types of mutations in inherited muscle channelopathies and in myotonic dystrophy type 2 Type de document : Article Auteurs : Zidar J Congrès : Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) Année de publication : 2008 Pages : p. 593 Langues : Anglais (eng) Résumé : The role of electromyographic short and long exercise tests in diagnosing inherited muscle channelopaties is well established. It has been reported that such tests can point to the affected genes or specific mutations. Our aim was to re-examine this hypothesis and, in addition, to test patients with myotonic dystrophy type 2 (DM2). We examined 24 patients: 11 with potassium aggravated myotonia (PAM) (SCN4A: 9 Val445Leu mutation, 2 Ala699Thr), 6 with myotonia congenita (MC) (different CLCN1 mutations), two with hypokalaemic periodic paralysis (HypoK-PP) (CACNA1S and KCNJ2 mutations), and 5 with DM2, where aberrantly spliced RNA produces altered chloride channel protein. Results of the long and short exercise tests were normal or near to normal in 9 PAM (all Val445Leu) patients. A decrease of the compound muscle action potential (CMAP) late after completion of the long exercise and also after short exercise was noted in one of the two Ala699Thr patients but was normal in the other. Five of the 6 MC patients had autosomal dominant and one recessive form of the disease. In none of them, the results of tests differed significantly from normality. The HypoK-PP1 patient, tested when taking acetazolamide, had no abnormalities. In patient with Andersen-Tawil’s syndrome, a progressive decline in CMAP amplitudes after long exercise was noted. In DM2 patients, we found minor deviations from normality with no specific pattern. Number of the examined patients is rather small, especially in the subgroups. The results were largely normal in PAM Val445Leu patients while one Ala699Thr patient a decline of muscle response after long exercise was noted. All MC patients, those with dominantly and recessively inherited disease forms, were normal on these tests. The Hypo-PP patient’s CMAPs declined on long exercise. Specificity of the electromyographic exercise tests seems to be limited, but they may help in decisions for genetic analyses.
Hereditary neuropathy with liability to pressure palsies. A genetic study of patients with acute peripheral nerve palsiesZidar J, Leonardis L, Rautenstrauss B
Congrès : IX International congress on neuromuscular diseases (30 Aout-4 Sept 1998; Adélaïde)
Muscle & Nerve, 1998, Suppl 7, p. s183