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PMID:23514108
| Citation |
Toro, C, Olivé, M, Dalakas, MC, Sivakumar, K, Bilbao, JM, Tyndel, F, Vidal, N, Farrero, E, Sambuughin, N and Goldfarb, LG (2013) Exome sequencing identifies titin mutations causing hereditary myopathy with early respiratory failure (HMERF) in families of diverse ethnic origins. BMC Neurol 13:29 |
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| Abstract |
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. |
| Links |
PubMed PMC3610280 Online version:10.1186/1471-2377-13-29 |
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Significance
Annotations
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See also
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