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

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 th...

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Hlavní autoři: Toro, Camilo, Olivé, Montse, Dalakas, Marinos C, Sivakumar, Kumaraswami, Bilbao, Juan M, Tyndel, Felix, Vidal, Noemí, Farrero, Eva, Sambuughin, Nyamkhishig, Goldfarb, Lev G
Médium: Artigo
Jazyk:Inglês
Vydáno: BioMed Central 2013
Témata:
Research Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3610280/
https://ncbi.nlm.nih.gov/pubmed/23514108
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1471-2377-13-29
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