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...

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Detalles Bibliográficos
Autores principales: Sakiyama, Yusuke, Okamoto, Yuji, Higuchi, Itsuro, Inamori, Yukie, Sangatsuda, Yoko, Michizono, Kumiko, Watanabe, Osamu, Hatakeyama, Hideyuki, Goto, Yu-ichi, Arimura, Kimiyoshi, Takashima, Hiroshi
Formato: Texto
Lenguaje:English
Publicado: Springer-Verlag 2011
Materias:
Case Reports
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

Internet

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

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