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Limb-girdle muscular dystrophy in the Agarwals: Utility of founder mutations in CAPN3 gene
BACKGROUND AND PURPOSE: Diagnostic evaluation of limb-girdle muscular dystrophy type 2A (LGMD2A) involves specialized studies on muscle biopsy and mutation analysis. Mutation screening is the gold standard for diagnosis but is difficult as the gene is large and multiple mutations are known. This stu...
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| Veröffentlicht in: | Ann Indian Acad Neurol |
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| Hauptverfasser: | , , , , |
| Format: | Artigo |
| Sprache: | Inglês |
| Veröffentlicht: |
Medknow Publications & Media Pvt Ltd
2016
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| Schlagworte: | |
| Online Zugang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4782525/ https://ncbi.nlm.nih.gov/pubmed/27011640 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.4103/0972-2327.175435 |
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