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A TRPV4 mutation caused Charcot-Marie-Tooth disease type 2C with scapuloperoneal muscular atrophy overlap syndrome and scapuloperoneal spinal muscular atrophy in one family: a case report and literature review

2023-01-30

Abstract excerpt

<h4>Background: </h4> Charcot-Marie-Tooth disease 2C (CMT2C) and scapuloperoneal spinal muscular atrophy (SPSMA) are different clinical phenotypes of TRPV4 gene mutation. The mutation of p.Arg316Cys has been previously found to cause CMT2C and SPSMA separately. Case presentation Here, we reported a Chinese family harboring the same p.Arg316Cys variant but with overlap syndrome and different clinical manifestation...

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Literature Corpus work: da906ac8-1052-5b9a-ae60-86183d5136b4
DOI: 10.21203/rs.3.rs-2485021/v1

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