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Article Dans Une Revue Ann Neurol Année : 2017

Recessive MYPN mutations cause cap myopathy with occasional nemaline rods

Résumé

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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hal-03680439 , version 1 (27-05-2022)

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Xavière Lornage, Edoardo Malfatti, Raphael Schneider, Valerie Biancalana, Jean Cuisset, et al.. Recessive MYPN mutations cause cap myopathy with occasional nemaline rods. Ann Neurol, 2017, 81 (3), pp.467-473. ⟨10.1002/ana.24900⟩. ⟨hal-03680439⟩
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