GGPS1 ‐associated muscular dystrophy with and without hearing loss

Ultra‐rare biallelic pathogenic variants in geranylgeranyl diphosphate synthase 1 (GGPS1) have recently been associated with muscular dystrophy/hearing loss/ovarian insufficiency syndrome. Here, we describe 11 affected individuals from four unpublished families with ultra‐rare missense variants in G...

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Detalles Bibliográficos
Autores principales: Kaiyrzhanov, Rauan, Perry, Luke, Rocca, Clarissa, Zaki, Maha S., Hosny, Heba, Araujo Martins Moreno, Cristiane, Phadke, Rahul, Zaharieva, Irina, Camelo Gontijo, Clara, Beetz, Christian, Pini, Veronica, Movahedinia, Mojtaba, Zanoteli, Edmar, DiTroia, Stephanie, Vuillaumier‐Barrot, Sandrine, Isapof, Arnaud, Mehrjardi, Mohammad Yahya Vahidi, Ghasemi, Nasrin, Sarkozy, Anna, Muntoni, Francesco, Whalen, Sandra, Vona, Barbara, Houlden, Henry, Maroofian, Reza
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Brief Communications
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9463955/
https://www.ncbi.nlm.nih.gov/pubmed/35869884
http://dx.doi.org/10.1002/acn3.51633

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9463955/
https://www.ncbi.nlm.nih.gov/pubmed/35869884
http://dx.doi.org/10.1002/acn3.51633

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