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Recessive PYROXD1 mutations cause adult-onset limb-girdle-type muscular dystrophy
OBJECTIVE: To describe adult-onset limb-girdle-type muscular dystrophy caused by biallelic variants in the PYROXD1 gene, which has been recently linked to early-onset congenital myofibrillar myopathy. METHODS: Whole exome sequencing was performed for adult-onset neuromuscular disease patients with n...
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| Gepubliceerd in: | J Neurol |
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| Hoofdauteurs: | , , , , , , , , , , , , , , |
| Formaat: | Artigo |
| Taal: | Inglês |
| Gepubliceerd in: |
Springer Berlin Heidelberg
2018
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| Onderwerpen: | |
| Online toegang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6373352/ https://ncbi.nlm.nih.gov/pubmed/30515627 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s00415-018-9137-8 |
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