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Compound heterozygous CAPN3 variants identified in a family with limb-girdle muscular dystrophy recessive 1
Limb-girdle muscular dystrophy recessive 1 (LGMDR1), a rare subtype of muscular dystrophy, is characterized by progressive muscle weakness and degeneration with a predominant presentation on the shoulder, pelvic and proximal limb muscles. Variants in calcium-activated neutral proteinase 3 (CAPN3), w...
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| Vydáno v: | Mol Med Rep |
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| Hlavní autoři: | , , , , , |
| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
D.A. Spandidos
2021
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| Témata: | |
| On-line přístup: | https://ncbi.nlm.nih.gov/pmc/articles/PMC8097764/ https://ncbi.nlm.nih.gov/pubmed/33899113 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3892/mmr.2021.12119 |
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