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SUCLA2 Arg407Trp mutation can cause a nonprogressive movement disorder – deafness syndrome
SUCLA2 is a component of mitochondrial succinate‐CoA ligase and nucleotide diphosphokinase activities. Its absence results in Krebs cycle failure, mitochondrial DNA depletion, and a childhood‐fatal encephalomyopathy. We describe a purely neurologic allelic form of the disease consisting of deafness,...
| Autores principales: | , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
John Wiley and Sons Inc.
2020
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7818133/ https://www.ncbi.nlm.nih.gov/pubmed/33231368 http://dx.doi.org/10.1002/acn3.51247 |