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Article

Exome sequencing identifies titin mutations causing hereditary myopathy with early respiratory failure (HMERF) in families of diverse ethnic origins.

BMC neurology - 20 Mar 2013

Toro Camilo, Olivé Montse, Dalakas Marinos C, Sivakumar Kumaraswami, Bilbao Juan M, Tyndel Felix, Vidal Noemí, Farrero Eva, Sambuughin Nyamkhishig, Goldfarb Lev G

Abstract excerpt

BACKGROUND: Hereditary myopathy with early respiratory failure (HMERF) was described in several North European families and recently linked to a titin gene (TTN) mutation. We independently studied HMERF-like diseases with the purpose to identify the cause, refine diagnostic criteria, and estimate the frequency of this disease among myopathy patients of various ethnic origins. METHODS: Whole exome sequencing...

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Identifiers

PMID: 23514108
DOI: 10.1186/1471-2377-13-29
PMCID: PMC3610280

Genes

TTN

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