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...

Descripción completa

Detalles Bibliográficos
Autores principales: Jalali-Sefid-Dashti, Mahjoubeh, Nel, Melissa, Heckmann, Jeannine M., Gamieldien, Junaid
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2018
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5992709/
https://www.ncbi.nlm.nih.gov/pubmed/29879922
http://dx.doi.org/10.1186/s12881-018-0613-x

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5992709/
https://www.ncbi.nlm.nih.gov/pubmed/29879922
http://dx.doi.org/10.1186/s12881-018-0613-x

Ejemplares similares