Homozygous missense variant in the TTN gene causing autosomal recessive limb-girdle muscular dystrophy type 10

BACKGROUND: Limb-girdle muscular dystrophies (LGMDs) are large group of heterogeneous genetic diseases, having a hallmark feature of muscle weakness. Pathogenic mutations in the gene encoding the giant skeletal muscle protein titin (TTN) are associated with several muscle disorders, including cardio...

Descripción completa

Detalles Bibliográficos
Autores principales: Khan, Amjad, Wang, Rongrong, Han, Shirui, Umair, Muhammad, Abbas, Safdar, Khan, Muhammad Ismail, Alshabeeb, Mohammad A., Alfadhel, Majid, Zhang, Xue
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2019
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6819411/
https://www.ncbi.nlm.nih.gov/pubmed/31664938
http://dx.doi.org/10.1186/s12881-019-0895-7

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6819411/
https://www.ncbi.nlm.nih.gov/pubmed/31664938
http://dx.doi.org/10.1186/s12881-019-0895-7

Ejemplares similares