GGPS1 Mutations Cause Muscular Dystrophy/Hearing Loss/Ovarian Insufficiency Syndrome.
A Reghan FoleyYaqun ZouJames E DunfordJachinta RooneyGoutam ChandraHui XiongVolker StraubThomas VoitNorma RomeroSandra DonkervoortYing HuThomas MarkelloAdam HornLeila QebiboJahannaz DastgirKatherine G MeilleurRichard S FinkelYanbin FanKamel MamchaouiStephanie DuguezIsabelle NelsonJocelyn LaporteMariarita SantiEdoardo MalfattiThierry MaisonobePhilippe TouraineMichio HiranoImelda HughesKate BushbyUdo OppermannJohann BöhmJyoti K JaiswalTanya StojkovicCarsten G BonnemannPublished in: Annals of neurology (2020)
The identification of specific GGPS1 mutations defines the cause of a unique form of muscular dystrophy with hearing loss and ovarian insufficiency and points to a novel pathway for this clinical constellation. ANN NEUROL 2020;88:332-347.