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...

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Pubblicato in:BMC Med Genet
Autori principali: Khan, Amjad, Wang, Rongrong, Han, Shirui, Umair, Muhammad, Abbas, Safdar, Khan, Muhammad Ismail, Alshabeeb, Mohammad A., Alfadhel, Majid, Zhang, Xue
Natura: Artigo
Lingua:Inglês
Pubblicazione: BioMed Central 2019
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Research Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC6819411/
https://ncbi.nlm.nih.gov/pubmed/31664938
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12881-019-0895-7
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