Article
Clinical and imaging hallmarks of the MYH7-related myopathy with severe axial involvement.
Muscle & nerve - 1 Aug 2018
Dabaj Ivana, Carlier Robert Y, Gómez-Andrés David, Neto Osório Abath, Bertini Enrico, D'amico Adele, Fattori Fabiana, PéRéon Yann, Castiglioni Claudia, Rodillo Eliana, Catteruccia Michela, Guimarães Júlio Brandão, Oliveira Acary Souza Bulle, Reed Umbertina Conti, Mesrob Lilia, Lechner Doris, Boland Anne, Deleuze Jean-François, Malfatti Edoardo, Bonnemann Carsten, Laporte Jocelyn, Romero Norma, Felter Adrien, Quijano-Roy Susana, Moreno Cristiane Araújo Martins, Zanoteli Edmar
Abstract excerpt
INTRODUCTION: MYH7 gene mutations are related to a heterogeneous group of skeletal and cardiac myopathies. METHODS: We evaluated clinical and muscle MRI changes in patients with mutations in the rod domain of MYH7, including 1 with mosaicism and 3 with novel missense mutations. RESULTS: Patients presented in childhood with a distal and axial phenotype. Biopsy findings were variable. Half of the cases displaying...
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