RecessiveMYPNmutations cause cap myopathy with occasional nemaline rods

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

Publikováno v: Annals of Neurology. 81:467-473

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 implica

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::3edab8dafbde836a327830ac8891ae5f
https://doi.org/10.1002/ana.24900

Common and variable clinical, histological, and imaging findings of recessive RYR1-related centronuclear myopathy patients

Autor: Cristiane de Araújo Martins Moreno, Valérie Biancalana, Julien Fauré, Jahannaz Dastgir, Lilia Mesrob, Soledad Monges, L. Medne, Edoardo Malfatti, Diana Bharucha-Goebel, Mariarita Santi, Emmanuelle Salort-Campana, James J. Collins, Raphaël Schneider, Chrystel Cheraud, A. Reghan Foley, Fabiana Lubieniecki, Norma B. Romero, Acary Souza Bulle Oliveira, Sandra Donkervoort, Julie Dawn Thompson, Osorio Abath Neto, Sabrina W. Yum, Carsten G. Bönnemann, John Rendu, Brenda Banwell, Johann Böhm, Anne Boland, Julio Brandao Guimaraes, Jocelyn Laporte, Xavière Lornage, Edmar Zanoteli, Bruno Eymard, Uluç Yiş, Payam Mohassel, Jean-François Deleuze, Umbertina Conti Reed, Doris Lechner

Publikováno v: Neuromuscular Disorders
Neuromuscular Disorders, Elsevier, 2017, 27 (11), pp.975-985. ⟨10.1016/j.nmd.2017.05.016⟩
Repositório Institucional da USP (Biblioteca Digital da Produção Intelectual)
Universidade de São Paulo (USP)
instacron:USP
Neuromuscular Disorders, 2017, 27 (11), pp.975-985. ⟨10.1016/j.nmd.2017.05.016⟩

International audience; Mutations in RYR1 give rise to diverse skeletal muscle phenotypes, ranging from classical central core disease to susceptibility to malignant hyperthermia. Next-generation sequencing has recently shown that RYR1 is implicated

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dc0927b007bd462d11ea0a0b031edde0
https://avesis.deu.edu.tr/publication/details/0ab412a5-da49-45d6-8f0e-33e4b2984dad/oai