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

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 se...

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Detalles Bibliográficos
Autores principales: Jamiri, Zeinab, Khosravi, Rana, Heidari, Mohammad Mehdi, Kiani, Ebrahim, Gharechahi, Javad
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9034668/
https://www.ncbi.nlm.nih.gov/pubmed/35212467
http://dx.doi.org/10.1002/mgg3.1913