Clinical and myopathological evaluation of early- and late-onset subtypes of myofibrillar myopathy

Publication year: 2011
Source: Neuromuscular Disorders, In Press, Corrected Proof, Available online 14 June 2011

Montse, Olivé , Zagaa, Odgerel , Amaia, Martínez , Juan José, Poza , Federico García, Bragado , …

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 pathogenic mutations was accomplished by sequencing of coding regions of the six genes known to cause MFM. Mutations in MYOT were the predominant cause of MFM in Spain affecting 18 of 35 families, followed…