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Article

A nonsense mutation in MME gene associates with autosomal recessive late-onset Charcot-Marie-Tooth disease.

Molecular genetics & genomic medicine - 1 May 2022

Jamiri Zeinab, Khosravi Rana, Heidari Mohammad Mehdi, Kiani Ebrahim, Gharechahi Javad

Abstract excerpt

BACKGROUND: The genetic cause for the majority of patients with late-onset axonal form of neuropathies have remained unknown. In this study we aimed to identify the causal mutation in a family with multiple affected individuals manifesting a range of phenotypic features consistent with late-onset sensorimotor axonal polyneuropathy. METHODS: Whole exome sequencing (WES) followed by targeted variant screening and...

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Identifiers

PMID: 35212467
DOI: 10.1002/mgg3.1913
PMCID: PMC9034668

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