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Article

[A case of Charcot-Marie-Tooth disease type 2Z caused by MORC2 S87L mutation mimicking spinal muscular atrophy].

Rinsho shinkeigaku = Clinical neurology - 21 Apr 2021

Yamamoto Daisuke, Oda Ryosuke, Hisahara Shin, Ishikawa Aki, Ogi Tomoo, Shimohama Shun

Abstract excerpt

A 33-year-old man with an unremarkable family history has had limb muscle weakness, joint contracture and skeleton deformation from early childhood. He was diagnosed with spinal muscular atrophy (SMA) by a pediatrician. He needed assistance and used orthoses in his daily life. There was no subjective sensory disturbance. However, physical examination showed slight sensory impairment, and nerve conduction study...

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Identifiers

PMID: 33762496
DOI: 10.5692/clinicalneurol.cn-001542

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

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