Article

A deep intronic variant in<i>MME</i>causes autosomal recessive Charcot-Marie-Tooth neuropathy through aberrant splicing

2024-04-24

Abstract excerpt

<h4>Background</h4> 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 Fam...

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Literature Corpus work: a418c3f4-6fc4-5277-bc05-8aca70103c8d
DOI: 10.1101/2024.04.22.24306048

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