A nonsense mutation in MME gene associates with autosomal recessive late-onset Charcot-Marie-Tooth disease.
Mol Genet Genomic Med. 2022 May;10(5):e1913. doi: 10.1002/mgg3.1913. Epub 2022 Feb 25.
Mol Genet Genomic Med. 2022.
PMID: 35212467
Free PMC article.