Loss-of-function variants in JPH1 cause congenital myopathy with prominent facial and ocular involvement.

Mridul JohariAna TopfChiara FollandJennifer DuffLein DofashPilar MartiThomas RobertsonJuan VilchezAnita CairnsElizabeth HarrisChiara Marini-BettoloKhalid HundallahAmal M AlhashemMohammed Al-OwainReza MaroofianGianina RavenscroftVolker Straub

Published in: Journal of medical genetics (2024)

results in a congenital myopathy with prominent facial, bulbar and ocular involvement.

Keyphrases

late onset
soft tissue
muscular dystrophy
copy number
optic nerve
gene expression