Homozygous truncating mutation in prenatally expressed skeletal isoform of TTN gene results in arthrogryposis multiplex congenita and myopathy without cardiac involvement

Title
Homozygous truncating mutation in prenatally expressed skeletal isoform of TTN gene results in arthrogryposis multiplex congenita and myopathy without cardiac involvement
Authors
Keywords
TTN, Arthrogryposis multiplex congenita, Core myopathy, Prenatally expressed isoform, Isodisomy
Journal
NEUROMUSCULAR DISORDERS
Volume 27, Issue 2, Pages 188-192
Publisher
Elsevier BV
Online
2016-11-11
DOI
10.1016/j.nmd.2016.11.002

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