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Recessive MYPN mutations cause cap myopathy with occasional nemaline rods

Author:
Xavière Lornage   Edoardo Malfatti   Chrystel Chéraud   Raphaël Schneider   Valérie Biancalana   Jean-Marie Cuisset   Matteo Garibaldi   Bruno Eymard   Michel Fardeau   Anne Boland   Jean-François Deleuze   Julie Thompson   Robert-Yves Carlier   Johann Böhm   Norma B. Romero and Jocelyn Laporte  


Journal:
Annals of Neurology


Issue Date:
2017


Abstract(summary):

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


Page:
467-473


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