GGPS1Mutations Cause Muscular Dystrophy/Hearing Loss/Ovarian Insufficiency Syndrome

Foley, AR; Zou, YQ; Dunford, JE; Rooney, J; Chandra, G; Xiong, H; Straub, V; Voit, T; Romero, N; Donkervoort, S; Hu, Y; Markello, T; Horn, A; Qebibo, L; Dastgir, J; Meilleur, KG; Finkel, RS; Fan, YB; Mamchaoui, K; Duguez, S; Nelson, I; Laporte, J; Santi, M; Malfatti, E; Maisonobe, T; Touraine, P; Hirano, M; Hughes, I; Bushby, K; Oppermann, U; Bohm, J; Jaiswal, JK; Stojkovic, T; Bonnemann, CG

Bonnemann, CG (corresponding author), NINDS, Neurogenet Branch, NIH, Porter Neurosci Res Ctr, 35 Convent Dr,Bldg 35,Room 2A-116, Bethesda, MD 20892 USA.

ANNALS OF NEUROLOGY, 2020; 88 (2): 332

Abstract

Objective A hitherto undescribed phenotype of early onset muscular dystrophy associated with sensorineural hearing loss and primary ovarian insufficie......

Full Text Link


Links

期刊讨论 | 中国SCI论文 | 期刊主页 | 投稿经验 | 杂志官网 | 投稿链接 | 作者需知 | PMC链接 | Pubmed全文检索