Article
Clinical and myopathological evaluation of early- and late-onset subtypes of myofibrillar myopathy.
Neuromuscular disorders : NMD - 1 Aug 2011
Olivé Montse, Odgerel Zagaa, Martínez Amaia, Poza Juan José, Bragado Federico García, Zabalza Ramón J, Jericó Ivonne, Gonzalez-Mera Laura, Shatunov Alexey, Lee Hee Suk, Armstrong Judith, Maraví Elías, Arroyo Maria Ramos, Pascual-Calvet Jordi, Navarro Carmen, Paradas Carmen, Huerta Mariano, Marquez Fabian, Rivas Eduardo Gutierrez-, Pou Adolf, Ferrer Isidre, Goldfarb Lev G
Abstract excerpt
Myofibrillar myopathies (MFM) are a group of disorders associated with mutations in DES, CRYAB, MYOT, ZASP, FLNC, or BAG3 genes and characterized by disintegration of myofibrils and accumulation of degradation products into intracellular inclusions. We retrospectively evaluated 53 MFM patients from 35 Spanish families. Studies included neurologic exam, muscle imaging, light and electron microscopic analysis of...
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