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Limb Girdle Muscular Dystrophy due to Digenic Inheritance of DES and CAPN3 Mutations
We report the clinical and genetic analysis of a 63-year-old man with progressive weakness developing over more than 20 years. Prior to his initial visit, he underwent multiple neurological and rheumatological evaluations and was treated for possible inflammatory myopathy. He did not respond to any...
| Autores principales: | , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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S. Karger AG
2018
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6180278/ https://www.ncbi.nlm.nih.gov/pubmed/30323756 http://dx.doi.org/10.1159/000492664 |