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

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0 Published in 2022 at "Molecular Genetics & Genomic Medicine"

DOI: 10.1002/mgg3.1913

Abstract: 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… read more here.

Keywords: mutation mme; mme gene; mutation; late onset ... See more keywords