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

Mridul JohariAna TopfChiara FollandJennifer DuffLein DofashPilar MartiThomas RobertsonJuan J VilchezAnita CairnsElizabeth HarrisChiara Marini-BettoloGianina RavenscroftVolker Straub

Published in: medRxiv : the preprint server for health sciences (2024)

cause a congenital myopathy predominantly affecting facial and ocular muscles. This study also provides clinical insights that may aid the clinicians in diagnosing similar genetically unresolved cases.

Keyphrases

late onset
soft tissue
muscular dystrophy
palliative care
gene expression
genome wide