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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...
| Autores principales: | , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
John Wiley and Sons Inc.
2022
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| 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 |