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Article

Charcot-Marie-Tooth disease type 2 caused by homozygous MME gene mutation superimposed by chronic inflammatory demyelinating polyneuropathy.

Rinsho shinkeigaku = Clinical neurology - 30 Sept 2017

Fujisawa Miwako, Sano Yasuteru, Omoto Masatoshi, Ogasawara Jyun-Ichi, Koga Michiaki, Takashima Hiroshi, Kanda Takashi

Abstract excerpt

We report a 59-year-old Japanese male who developed gradually worsening weakness and numbness of distal four extremities since age 50. His parents were first cousins, and blood and cerebral spinal examinations were unremarkable. Homozygous mutation of MME gene was detected and thus he was diagnos...

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Source

Identifiers

PMID: 28855494
DOI: 10.5692/clinicalneurol.cn-001036

Genes

MME

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Prepared record publication-28855494-2026-09-05.1. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 5 Sept 2026.

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