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G.O.10 - Exome sequencing identifies novel truncating TTN mutations with Emery–Dreifuss like muscular dystrophy and secondary calpain3 deficiency without cardiac abnormality

Author:
R. de Cid  R. Ben Yaou  C. Roudaut  S. Baulande  F. Leturcq  G. Bonne  B. Udd  N. Romero  K. Charton  E. Malfatti  I. Nelson  B. Eymard  I. Richard  


Journal:
Neuromuscular Disorders


Issue Date:
2015


Page:
S245-S245


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