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

@inproceedings{Toro2013ExomeSI,
  title={Exome sequencing identifies titin mutations causing hereditary myopathy with early respiratory failure (HMERF) in families of diverse ethnic origins},
  author={Camilo Gonz{\'a}lez Toro and Montse Oliv{\'e} and Marinos C. Dalakas and Kumaraswami Sivakumar and Juan Manuel Bilbao and Felix J Tyndel and Noem{\'i} Vidal and Eva Farrero and Nyamkhishig N Sambuughin and Lev G. Goldfarb},
  booktitle={BMC neurology},
  year={2013}
}
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 analysis was carried out in a large U.S. family that included seven members suffering… CONTINUE READING
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