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Article

Nemaline myopathy type 6: clinical and myopathological features.

Muscle & nerve - 1 Dec 2010

Olivé Montse, Goldfarb Lev G, Lee Hee-Suk, Odgerel Zagaa, Blokhin Andre, Gonzalez-Mera Laura, Moreno Dolores, Laing Nigel G, Sambuughin Nyamkhishig

Abstract excerpt

Nemaline myopathy (NEM) is one of the most common congenital myopathies. A unique subtype, NEM6, maps to chromosome 15q21-q23 in two pedigrees, but the causative gene has not been determined. We conducted clinical examination and myopathological studies in a new NEM family. Genotyping and gene screening were accomplished by searching known and 18 new candidate genes. The disease started in childhood by affecting...

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Identifiers

PMID: 21104864
DOI: 10.1002/mus.21788
PMCID: PMC3057880

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