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...
| Main Authors: | , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Association of Basic Medical Sciences of Federation of Bosnia and Herzegovina
2019-01-01
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| Series: | Bosnian Journal of Basic Medical Sciences |
| Subjects: | |
| Online Access: | http://bjbms.org/ojs/index.php/bjbms/article/view/3992 |