Progressive cerebellar atrophy in a patient with complex II and III deficiency and a novel deleterious variant in SDHA: A Counseling Conundrum

BACKGROUND: Complex II is an essential component of the electron transport chain, linking it with the tricarboxylic acid cycle. Its four subunits are encoded in the nuclear genome, and deleterious variants in these genes, including SDHA (OMIM 600857), are associated with a wide range of symptoms inc...

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Detalles Bibliográficos
Autores principales: Sturrock, Beattie R. H., Macnamara, Ellen F., McGuire, Peter, Kruk, Shannon, Yang, Ivan, Murphy, Jennifer, Tifft, Cyndi J., Gordon‐Lipkin, Eliza
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2021
Materias:
Clinical Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8222855/
https://www.ncbi.nlm.nih.gov/pubmed/33960148
http://dx.doi.org/10.1002/mgg3.1692

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8222855/
https://www.ncbi.nlm.nih.gov/pubmed/33960148
http://dx.doi.org/10.1002/mgg3.1692

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