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Article

A deep intronic variant in MME causes autosomal recessive Charcot-Marie-Tooth neuropathy through aberrant splicing.

Journal of the peripheral nervous system : JPNS - 1 Jun 2024

Grosz Bianca R, Parmar Jevin M, Ellis Melina, Bryen Samantha, Simons Cas, Reis Andre L M, Stevanovski Igor, Deveson Ira W, Nicholson Garth, Laing Nigel, Wallis Mathew, Ravenscroft Gianina, Kumar Kishore R, Vucic Steve, Kennerson Marina L

Abstract excerpt

BACKGROUND: Loss-of-function variants in MME (membrane metalloendopeptidase) are a known cause of recessive Charcot-Marie-Tooth Neuropathy (CMT). A deep intronic variant, MME c.1188+428A>G (NM_000902.5), was identified through whole genome sequencing (WGS) of two Australian families with recessive inheritance of axonal CMT using the seqr platform. MME c.1188+428A>G was detected in a homozygous state in Family 1,...

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PMID: 38860315
DOI: 10.1111/jns.12637

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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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