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Dihydropyridine Receptor Congenital Myopathy In A Consangineous Turkish Family
Dihydropyridine receptor congenital myopathy is a recently described congenital myopathy caused by dominant or recessive mutations in the CACNA1S gene. To date, only 11 cases from 7 families were described in a single report. Here, we describe a consanguineous family with three affected children, pr...
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| Udgivet i: | J Neuromuscul Dis |
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| Main Authors: | , , , , , , , , , |
| Format: | Artigo |
| Sprog: | Inglês |
| Udgivet: |
2019
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| Fag: | |
| Online adgang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6736676/ https://ncbi.nlm.nih.gov/pubmed/31227654 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3233/JND-190383 |
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