GGPS1 Mutations Cause Muscular Dystrophy/Hearing Loss/Ovarian Insufficiency Syndrome.

doi:10.1002/ana.25772

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Article

GGPS1 Mutations Cause Muscular Dystrophy/Hearing Loss/Ovarian Insufficiency Syndrome.

Annals of neurology - 1 Aug 2020

Foley A Reghan, Zou Yaqun, Dunford James E, Rooney Jachinta, Chandra Goutam, Xiong Hui, Straub Volker, Voit Thomas, Romero Norma, Donkervoort Sandra, Hu Ying, Markello Thomas, Horn Adam, Qebibo Leila, Dastgir Jahannaz, Meilleur Katherine G, Finkel Richard S, Fan Yanbin, Mamchaoui Kamel, Duguez Stephanie, Nelson Isabelle, Laporte Jocelyn, Santi Mariarita, Malfatti Edoardo, Maisonobe Thierry, Touraine Philippe, Hirano Michio, Hughes Imelda, Bushby Kate, Oppermann Udo, Böhm Johann, Jaiswal Jyoti K, Stojkovic Tanya, Bönnemann Carsten G

Abstract excerpt

OBJECTIVE: A hitherto undescribed phenotype of early onset muscular dystrophy associated with sensorineural hearing loss and primary ovarian insufficiency was initially identified in 2 siblings and in subsequent patients with a similar constellation of findings. The goal of this study was to understand the genetic and molecular etiology of this condition. METHODS: We applied whole exome sequencing (WES)...

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PMID: 32403198
DOI: 10.1002/ana.25772
PMCID: PMC7496979

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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