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Limb-girdle muscular dystrophy due to GMPPB mutations: A case report and comprehensive literature review
Mutations in the guanosine diphosphate mannose (GDP-mannose) pyrophosphorylase B (GMPPB) gene are rare. To date, 72 cases with GMPPB gene mutations have been reported. Herein, we reported a case of a 29-year-old Chinese male presenting with limb-girdle muscular dystrophy (LGMD) who was found to have...
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| Yayımlandı: | Bosn J Basic Med Sci |
|---|---|
| Asıl Yazarlar: | , , , , , |
| Materyal Türü: | Artigo |
| Dil: | Inglês |
| Baskı/Yayın Bilgisi: |
Association of Basic Medical Sciences of Federation of Bosnia and Herzegovina
2020
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| Konular: | |
| Online Erişim: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7202191/ https://ncbi.nlm.nih.gov/pubmed/30684953 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.17305/bjbms.2019.3992 |
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