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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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Detaylı Bibliyografya
Yayımlandı:Case Rep Neurol
Asıl Yazarlar: Peddareddygari, Leema Reddy, Oberoi, Kinsi, Grewal, Raji P.
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: S. Karger AG 2018
Konular:
Online Erişim: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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