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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...

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Vydáno v:Case Rep Neurol
Hlavní autoři: Peddareddygari, Leema Reddy, Oberoi, Kinsi, Grewal, Raji P.
Médium: Artigo
Jazyk:Inglês
Vydáno: S. Karger AG 2018
Témata:
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC6180278/
https://ncbi.nlm.nih.gov/pubmed/30323756
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1159/000492664
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