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Exome sequencing identifies novel dysferlin mutation in a family with pauci-symptomatic heterozygous carriers
BACKGROUND: We investigated a South African family of admixed ancestry in which the first generation (G1) developed insidious progressive distal to proximal weakness in their twenties, while their offspring (G2) experienced severe unexpected symptoms of myalgia and cramps since adolescence. Our aim...
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| Publicado no: | BMC Med Genet |
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| Main Authors: | , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
BioMed Central
2018
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5992709/ https://ncbi.nlm.nih.gov/pubmed/29879922 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12881-018-0613-x |
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