Adult‐onset myoclonus ataxia associated with the mitochondrial m.8993 T > C “ NARP ” mutation
Author:
Affiliation:
1. Wellcome Trust Center for Mitochondrial Research, United KingdomNewcastle UniversityNewcastle upon Tyne United Kingdom
2. Institute of NeuroscienceNewcastle UniversityNewcastle upon Tyne United Kingdom
Publisher
Wiley
Subject
Neurology (clinical),Neurology
Link
https://onlinelibrary.wiley.com/doi/pdf/10.1002/mds.26358
Reference7 articles.
1. A second missense mutation in the mitochondrial ATPase 6 gene in Leigh's syndrome
2. Adult-onset ataxia and polyneuropathy caused by mitochondrial 8993T→C mutation
3. Maternally inherited mitochondrial DNA disease in consanguineous families
4. Phenotypic heterogeneity of the 8344A>G mtDNA "MERRF" mutation
5. Autosomal recessive mitochondrial ataxic syndrome due to mitochondrial polymerase mutations
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1. Neuropathy, Ataxia, and Retinitis Pigmentosa Syndrome;Journal of Clinical Neuromuscular Disease;2023-03
2. ATP Synthase Diseases of Mitochondrial Genetic Origin;Frontiers in Physiology;2018-04-04
3. Cerebral Manifestations of Mitochondrial Disorders;Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques;2017-08-29
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