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Article

Clinical spectrum of CMT4C disease in patients homozygous for the p.Arg1109X mutation in SH3TC2.

Neuromuscular disorders : NMD - 1 Jul 2006

Colomer Jaume, Gooding Rebecca, Angelicheva Dora, King Rosalind H M, Guillén-Navarro Encarna, Parman Yesim, Nascimento Andres, Conill Joan, Kalaydjieva Luba

Abstract excerpt

We investigated the manifestations of CMT4C disease in a genetically homogeneous group of patients homozygous for the recently identified Gypsy founder mutation p.Arg1109X in SH3TC2. We observed a surprising degree of variation in age at onset, rate of progression, extent and severity of motor and sensory involvement, scoliosis, and cranial nerve involvement, suggesting that the phenotypic spectrum of CMT4C...

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Identifiers

PMID: 16806930
DOI: 10.1016/j.nmd.2006.05.005

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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