A carregar...
Variable phenotypes in a family with mitochondrial encephalomyopathy harboring a 3291T > C mutation in mitochondrial DNA
We present a Japanese family suffering from mitochondrial encephalomyopathy associated with a T-to-C transition at mitochondrial DNA (mtDNA) nucleotide position 3291. Clinical manifestations of the patients include cerebellar ataxia with myopathy, recurrent headache, and myoclonus and epilepsy. The...
Na minha lista:
| Main Authors: | , , , , |
|---|---|
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Springer Milan
2011
|
| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3171650/ https://ncbi.nlm.nih.gov/pubmed/21863273 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s10072-011-0719-9 |
| Tags: |
Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!
|