Article

Homozygous <i>TRPV4 mutation</i> causes congenital distal spinal muscular atrophy and arthrogryposis

2018-08-29

Abstract excerpt

<h4>Objective</h4> The objective of this study is to identify the genetic cause of disease in a congenital form of congenital spinal muscular atrophy and arthrogryposis (CSMAA). <h4>Methods</h4> A 2-year-old boy was diagnosed with arthrogryposis multiplex congenita, severe skeletal abnormalities, torticollis, vocal cord paralysis and diminished lower limb movement. Whole exome sequencing was performed on the pro...

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Literature Corpus work: 29e0f72e-b47a-50b3-84a7-a0105a2ce197
DOI: 10.1101/402388

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