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Article

Novel compound heterozygous missense mutations in GDAP1 cause Charcot-Marie-Tooth type 4A.

Journal of genetics - 1 Jan 2021

Xue Huiqin, Maksemous Neven, Sidhom David, Ma Lan, Chen Shaohui, Wu Jianrui, Feng Yu, M Haupt Larisa, R Griffiths Lyn

Abstract excerpt

Homozygous or compound heterozygous mutations in the GDAP1 gene cause Charcot-Marie-Tooth (CMT4A) that are consistent with an autosomal recessive mode of inheritance. The case reported in this study is clinically and genetically diagnosed with recessive CMT4A that is caused by a compound novel heterozygous GDAP1 mutation. The genomic DNA of the proband with the clinical diagnosis of CMT was screened for GDAP1...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 34470922

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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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