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

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

BMC Neurology 2013, 13:29  doi:10.1186/1471-2377-13-29

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