Novel OPA1 mutation featuring spastic paraparesis and intestinal dysmotility

A 58-year-old man with optic atrophy, spastic paraparesis, axonal sensorimotor peripheral neuropathy and intestinal dysmotility harbors a novel heterozygous missense mutation in the mitochondrial import signal peptide of OPA1. The case underscores the role of OPA1 in the pathogenesis of spastic para...

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Detalles Bibliográficos
Autores principales: Kazamel, Mohamed, Wong, Lee-Jun, Milone, Margherita
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2014
Materias:
Short Communication
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5121360/
https://www.ncbi.nlm.nih.gov/pubmed/27896119
http://dx.doi.org/10.1016/j.ymgmr.2014.09.006

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5121360/
https://www.ncbi.nlm.nih.gov/pubmed/27896119
http://dx.doi.org/10.1016/j.ymgmr.2014.09.006

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