Clinical and myopathological evaluation of early- and late-onset subtypes of myofibrillar myopathy.
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ABSTRACT:
SUBMITTER: Olive M
PROVIDER: S-EPMC5148150 | biostudies-literature | 2011 Aug
REPOSITORIES: biostudies-literature
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Clinical and myopathological evaluation of early- and late-onset subtypes of myofibrillar myopathy.
Olivé Montse M Odgerel Zagaa Z Martínez Amaia A Poza Juan José JJ Bragado Federico García FG Zabalza Ramón J RJ Jericó Ivonne I Gonzalez-Mera Laura L Shatunov Alexey A Lee Hee Suk HS Armstrong Judith J Maraví Elías E Arroyo Maria Ramos MR Pascual-Calvet Jordi J Navarro Carmen C Paradas Carmen C Huerta Mariano M Marquez Fabian F Rivas Eduardo Gutierrez- EG Pou Adolf A Ferrer Isidre I Goldfarb Lev G LG
Neuromuscular disorders : NMD 20110614 8
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 muscle biopsy, respiratory function testing and cardiologic work-up. Search for pathog ...[more]
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