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Recessive MYPN mutations cause cap myopathy with occasional nemaline rods.

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.
Ann Neurol; 81(3): 467-473, 2017 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-28220527
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.
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