Exome sequencing identifies novel truncating TTN mutations...

Neuromuscular Disorders 2015 / 10 Vol. 25

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

de Cid, R., Ben Yaou, R., Roudaut, C., Baulande, S., Leturcq, F., Bonne, G., Udd, B., Romero, N., Charton, K., Malfatti, E., Nelson, I., Eymard, B., Richard, I.
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Volume:
25
Language:
english
Journal:
Neuromuscular Disorders
DOI:
10.1016/j.nmd.2015.06.221
Date:
October, 2015
File:
PDF, 207 KB
english, 2015
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