A new disease allele for the p.C30071R mutation in titin...

Neuromuscular Disorders 2014 / 03 Vol. 24; Iss. 3

A new disease allele for the p.C30071R mutation in titin causing hereditary myopathy with early respiratory failure

Pfeffer, Gerald, Sambuughin, Nyamkhishig, Olivé, Montse, Tyndel, Felix, Toro, Camilo, Goldfarb, Lev G., Chinnery, Patrick F.
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Volume:
24
Language:
english
Journal:
Neuromuscular Disorders
DOI:
10.1016/j.nmd.2013.12.001
Date:
March, 2014
File:
PDF, 672 KB
english, 2014
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