A Case of Limb Girdle Muscular Dystrophy Type 2A from India: Copy Number Variation Analysis using Targeted Amplicon Sequencing
Limb Girdle Muscular Dystrophy-Type 2A (LGMD-2A) is an autosomal recessive disease caused due to mutation in the Calpain-3 (CAPN3) gene, leading to partial or total loss of protein. In India, LGMD-2A is the most prevalence form of the disease accounting for 47% of cases amongst the heterogeneous gro...
| Main Authors: | , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
JCDR Research and Publications Private Limited
2019-04-01
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| Series: | Journal of Clinical and Diagnostic Research |
| Subjects: | |
| Online Access: | https://jcdr.net/articles/PDF/12812/40923_CE[Ra1]_F(AC)_PF1(AG_KM)_PN(SL).pdf |