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A new phenotype of mitochondrial disease characterized by familial late-onset predominant axial myopathy and encephalopathy
Axial myopathy is a rare neuromuscular disease that is characterized by paraspinal muscle atrophy and abnormal posture, most notably camptocormia (also known as bent spine). The genetic cause of familial axial myopathy is unknown. Described here are the clinical features and cause of late-onset pred...
| Autores principales: | , , , , , , , , , , |
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| Formato: | Texto |
| Lenguaje: | English |
| Publicado: |
Springer-Verlag
2011
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3098999/ https://www.ncbi.nlm.nih.gov/pubmed/21424749 http://dx.doi.org/10.1007/s00401-011-0818-y |