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Article

Charcot-Marie-Tooth disease type 1C: Clinical and electrophysiological findings for the c.334G>a (p.Gly112Ser) Litaf/Simple mutation.

Muscle & nerve - 1 Dec 2017

Jerath Nivedita U, Shy Michael E

Abstract excerpt

INTRODUCTION: Charcot-Marie-Tooth disease type 1C (CMT1C) is a rare, dominantly inherited neuropathy caused by mutations in the lipopolysaccharide-induced tumor necrosis factor (LITAF) or small integral membrane protein of the lysosome/late endosome (SIMPLE) gene. METHODS: We present a case series comprised of 10 patients in whom CMT1C is caused by a Gly112Ser substitution in the encoded protein. We focus on...

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Identifiers

PMID: 28164329
DOI: 10.1002/mus.25600
PMCID: PMC5587391

Genes

LITAF

Variants

Provenance

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Source receipt: pubmed, retrieved 7 Sept 2026.

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Charcot-Marie-Tooth disease type 1C: Clinical and electrophysiological findings for the c.334G>a (p.Gly112Ser) Litaf/Simple mutation.PMID 28164329Read ↗

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Mutation of a putative protein degradation gene LITAF/SIMPLE in Charcot-Marie-Tooth disease 1CSemantic proximity Read ↗

Atypical presentation of Charcot-Marie-Tooth disease type 1C with a new mutation: a case report.Semantic proximity Read ↗

Identification and clinical characterization of Charcot-Marie-Tooth disease type 1C patients with LITAF p.G112S mutation.Semantic proximity Read ↗

The LITAF/SIMPLE I92V sequence variant results in an earlier age of onset of CMT1A/HNPP diseases.Semantic proximity Read ↗

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Tryptophan to Glycine mutation in the position 116 leads to protein aggregation and decreases the stability of the LITAF protein.Semantic proximity Read ↗

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LITAF mutations associated with Charcot-Marie-Tooth disease 1C show mislocalization from the late endosome/lysosome to the mitochondria.Semantic proximity Read ↗

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