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Article

A case of congenital spinal muscular atrophy with pain due to a mutation in TRPV4.

Neuromuscular disorders : NMD - 1 Dec 2016

Fleming Jason, Quan Dianna

Abstract excerpt

We present a patient with congenital spinal muscular atrophy associated with pain, subjective sensory loss, right talipes equinovarus, delayed walking, and progressive gait impairment. A sister and niece reportedly had Charcot-Marie-Tooth 1A, but the patient's electromyogram showed an axonal motor neuropathy or neuronopathy. We identified a c.806G>A TRPV4 gene mutation causing an Arg269His amino acid...

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Source

Identifiers

PMID: 27751652
DOI: 10.1016/j.nmd.2016.09.013

Genes

TRPV4

Variants

Provenance

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