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Article

Whole-exome sequencing detected a novel AIFM1 variant in a Han-Chinese family with Cowchock syndrome.

Hereditas - 12 May 2023

Wang Chenyu, Lin Zhaojing, Yuan ZhuangZhuang, Tang Tieyu, Fan Liangliang, Liu Yihui, Wu Xuan

Abstract excerpt

Charcot-Marie-Tooth disease(CMT) is a hereditary peripheral neuropathy, characterized by progressive distal hypoesthesia and amyotrophia. CMT is characterized by an X- linked recessive inheritance pattern. The apoptosis-inducing factor mitochondria associated-1 (AIFM1) is the main pathogenic gene of the X-linked recessive Charcot-Marie-Tooth disease-4 with or without cerebellar ataxia (CMTX4), also known as...

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Identifiers

PMID: 37173762
DOI: 10.1186/s41065-023-00282-z
PMCID: PMC10176718

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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