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Article

Mitochondrial trifunctional protein deficiency: an adult patient with similar progress to Charcot-Marie-Tooth disease.

Rinsho shinkeigaku = Clinical neurology - 25 Feb 2017

Yamamoto Yuki, Matsui Naoko, Hiramatsu Yu, Miyazaki Yoshimichi, Nodera Hiroyuki, Izumi Yuishin, Takashima Hiroshi, Kaji Ryuji

Abstract excerpt

A 45-year-old man presented to us due to slowly progressive muscle weakness and sensory disturbances in his lower limbs since his 40's. He reported multiple episodes of exercise-induced severe muscle fatigue and brown urine in his childhood, which disappeared by age 20. A nerve conduction study showed peripheral axonal neuropathy and then Charcot-Marie-Tooth disease (CMT) was considered as the most likely...

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Source

Identifiers

PMID: 28132977
DOI: 10.5692/clinicalneurol.cn-000976

Genes

HADHB
HADHA

Provenance

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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