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

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 underst...

Descripción completa

Detalles Bibliográficos
Autores principales: 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.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2020
Materias:
Research Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7496979/
https://www.ncbi.nlm.nih.gov/pubmed/32403198
http://dx.doi.org/10.1002/ana.25772

Ejemplares similares

Ejemplares similares