Patients with ACVR1(R206H) mutations have an increased prevalence of cardiac conduction abnormalities on electrocardiogram in a natural history study of Fibrodysplasia Ossificans Progressiva

BACKGROUND: Genetic contributors to cardiac arrhythmias are often found in cardiovascular conduction pathways and ion channel proteins. Fibrodysplasia ossificans progressiva (FOP) is an ultra-rare disease of massive heterotopic ossification caused by a highly recurrent R206H mutation in ACVR1/ALK2....

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Bibliografiska uppgifter
I publikationen:Orphanet J Rare Dis
Huvudupphovsmän: Kou, Samuel, De Cunto, Carmen, Baujat, Geneviève, Wentworth, Kelly L., Grogan, Donna R., Brown, Matthew A., Di Rocco, Maja, Keen, Richard, Al Mukaddam, Mona, le Quan Sang, Kim-Hanh, Masharani, Umesh, Kaplan, Frederick S., Pignolo, Robert J., Hsiao, Edward C.
Materialtyp: Artigo
Språk:Inglês
Publicerad: BioMed Central 2020
Ämnen:
Research
Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC7389682/
https://ncbi.nlm.nih.gov/pubmed/32727600
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-020-01465-x
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