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Severe dystonia, cerebellar atrophy, and cardiomyopathy likely caused by a missense mutation in TOR1AIP1
BACKGROUND: Dystonia, cerebellar atrophy, and cardiomyopathy constitute a rare association. METHODS: We used homozygosity mapping and whole exome sequencing to determine the mutation, western blot and immunolabelling on cultured fibroblasts to demonstrate the lower expression and the mislocalization...
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| Publicado no: | Orphanet J Rare Dis |
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| Main Authors: | , , , , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
BioMed Central
2014
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4302636/ https://ncbi.nlm.nih.gov/pubmed/25425325 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-014-0174-9 |
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