Homozygosity of the Dominant Myotilin c.179C>T (p.Ser60Phe) Mutation Causes a More Severe and Proximal Muscular Dystrophy - Ecole Nationale du Génie de l'Eau et de l'Environnement de Strasbourg Accéder directement au contenu
Article Dans Une Revue Journal of Neuromuscular Diseases Année : 2016

Homozygosity of the Dominant Myotilin c.179C>T (p.Ser60Phe) Mutation Causes a More Severe and Proximal Muscular Dystrophy

Résumé

Most myotilinopathy patients present with a dominant late onset distal phenotype and myofibrillar pathology, although the first MYOT mutation in a family reported to have LGMD phenotype. We report here a French family affected with a late onset proximal and distal muscle weakness and myofibrillar myopathy on muscle pathology, in which the siblings known to be clinically affected were homozygous for the c.179C>T (p.Ser60Phe) myotilin gene mutation. One subjectively asymptomatic member of the family was heterozygous for this mutation. This is the first report of a family with patients being homozygous for a known dominant MYOT mutation. Dominant negative mutations are generally considered not to cause a more severe disease in homozygosity, but our data clearly demonstrate the existence of dominant MYOT mutations with a possible dose effect causing a more severe disease phenotype in homozygosity in the spectrum of myofibrillar myopathies (MFM).

Domaines

Génétique
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Dates et versions

hal-03680493 , version 1 (27-05-2022)

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Citer

Gabrielle Rudolf, T. Suominen, S. Penttila, P. Hackman, A. Evila, et al.. Homozygosity of the Dominant Myotilin c.179C>T (p.Ser60Phe) Mutation Causes a More Severe and Proximal Muscular Dystrophy. Journal of Neuromuscular Diseases, 2016, 3 (2), pp.275-281. ⟨10.3233/JND-150143⟩. ⟨hal-03680493⟩
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