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A novel SUCLA2 mutation presenting as a complex childhood movement disorder
SUCLA2 defects have been associated with mtDNA depletion and the triad of hypotonia, dystonia/Leigh-like syndrome, and deafness. A 9-year-old Brazilian boy of consanguineous parents presented with psychomotor delay, deafness, myopathy, ataxia, and chorea. Despite the prominent movement disorder, bra...
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| Publicado no: | J Child Neurol |
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| Main Authors: | , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
2016
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6815879/ https://ncbi.nlm.nih.gov/pubmed/27651038 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1177/0883073816666221 |
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