GGPS1‐associated muscular dystrophy with and without hearing loss
GGPS1‐associated muscular dystrophy with and without hearing loss
About this item
Full title
Author / Creator
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 and Maroofian, Reza
Publisher
Bognor Regis: John Wiley & Sons, Inc
Journal title
Language
English
Formats
Publication information
Publisher
Bognor Regis: John Wiley & Sons, Inc
Subjects
More information
Scope and Contents
Contents
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 Here, we describe 11 affected individuals from four unpublished families with ultra‐rare missense variants in GGPS1 and provide follow‐up details from a previous...
Alternative Titles
Full title
GGPS1‐associated muscular dystrophy with and without hearing loss
Authors, Artists and Contributors
Author / Creator
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
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_doaj_primary_oai_doaj_org_article_0069e864fab94067923113299b1deef1
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_0069e864fab94067923113299b1deef1
Other Identifiers
ISSN
2328-9503
E-ISSN
2328-9503
DOI
10.1002/acn3.51633
