A novel MT-CO2 variant causing cerebellar ataxia and neuropathy: The role of muscle biopsy in diagnosis and defining pathogenicity

Pathogenic variants in mitochondrial DNA (mtDNA) are associated with significant clinical heterogeneity with neuromuscular involvement commonly reported. Non-syndromic presentations of mtDNA disease continue to pose a diagnostic challenge and with genomic testing still necessitating a muscle biopsy...

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Detalles Bibliográficos
Autores principales: Baty, Karen, Farrugia, Maria E., Hopton, Sila, Falkous, Gavin, Schaefer, Andrew M., Stewart, William, Willison, Hugh J., Reilly, Mary M., Blakely, Emma L., Taylor, Robert W., Ng, Yi Shiau
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Pergamon Press 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8708152/
https://www.ncbi.nlm.nih.gov/pubmed/34325999
http://dx.doi.org/10.1016/j.nmd.2021.05.014

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8708152/
https://www.ncbi.nlm.nih.gov/pubmed/34325999
http://dx.doi.org/10.1016/j.nmd.2021.05.014

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