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- Title
Recessive MYPN mutations cause cap myopathy with occasional nemaline rods.
- Authors
Lornage, Xavière; Malfatti, Edoardo; Chéraud, Chrystel; Schneider, Raphaël; Biancalana, Valérie; Cuisset, Jean‐Marie; Garibaldi, Matteo; Eymard, Bruno; Fardeau, Michel; Boland, Anne; Deleuze, Jean‐François; Thompson, Julie; Carlier, Robert‐Yves; Böhm, Johann; Romero, Norma B.; Laporte, Jocelyn
- 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.
- Publication
Annals of Neurology, 2017, Vol 81, Issue 3, p467
- ISSN
0364-5134
- Publication type
journal article
- DOI
10.1002/ana.24900