| Literature DB >> 28220527 |
Xavière Lornage1,2,3,4, Edoardo Malfatti5,6,7, Chrystel Chéraud1,2,3,4, Raphaël Schneider1,2,3,4,8, Valérie Biancalana1,2,3,4,9, Jean-Marie Cuisset10, Matteo Garibaldi6,11,12, Bruno Eymard5,7, Michel Fardeau5,6,7, Anne Boland13, Jean-François Deleuze13, Julie Thompson8, Robert-Yves Carlier14,15, Johann Böhm1,2,3,4, Norma B Romero5,6,7, Jocelyn Laporte1,2,3,4.
Abstract
Congenital myopathies are phenotypically and genetically heterogeneous. We describe homozygous truncating mutations in MYPN in 2 unrelated families with a slowly progressive congenital cap myopathy. MYPN encodes the Z-line protein myopalladin implicated in sarcomere integrity. Functional experiments demonstrate that the mutations lead to mRNA defects and to a strong reduction in full-length protein expression. Myopalladin signals accumulate in the caps together with alpha-actinin. Dominant MYPN mutations were previously reported in cardiomyopathies. Our data uncover that mutations in MYPN cause either a cardiac or a congenital skeletal muscle disorder through different modes of inheritance. Ann Neurol 2017;81:467-473.Entities:
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Year: 2017 PMID： 28220527 DOI： 10.1002/ana.24900
Source DB: PubMed Journal: Ann Neurol ISSN： 0364-5134 Impact factor: 10.422