Dominant or recessive mutations in the RYR1 gene causing central core myopathy in Brazilian patients

Central Core Disease (CCD) is an inherited neuromuscular disorder characterized by the presence of cores in muscle biopsy. CCD is caused by mutations in the RYR1 gene. This gene encodes the ryanodine receptor 1, which is an intracellular calcium release channel from the sarcoplasmic reticulum to the...

Descrizione completa

Salvato in:
Dettagli Bibliografici
Pubblicato in:Acta Myol
Autori principali: Galleni Leão, Leonardo, Santos Souza, Lucas, Nogueira, Letícia, Pavanello, Rita de Cássia Mingroni, Gurgel-Giannetti, Juliana, Reed, Umbertina C, Oliveira, Acary S.B., Cuperman, Thais, Cotta, Ana, FPaim, Julia, Zatz, Mayana, Vainzof, Mariz
Natura: Artigo
Lingua:Inglês
Pubblicazione: Pacini Editore Srl 2020
Soggetti:
Original Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC7783440/
https://ncbi.nlm.nih.gov/pubmed/33458582
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.36185/2532-1900-030
Tags: Aggiungi Tag
Nessun Tag, puoi essere il primo ad aggiungerne! !

Documenti analoghi