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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...
| Autores principales: | , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Elsevier
2014
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| Materias: | |
| 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 |