Title: | GGPS1-associated muscular dystrophy with and without hearing loss |
Journal : | Annals of clinical and translational neurology |
Authors: | Kaiyrzhanov R ; Perry L ; Rocca C ; Zaki MS ; Hosny H ; Araújo Martins Moreno C ; Phadke R ; Zaharieva I ; Camelo Gontijo C ; Beetz C ; Pini V ; Movahedinia M ; Zanoteli E ; DiTroia S ; Vuillaumier-Barrot S ; Isapof A ; Mehrjardi MYV ; Ghasemi N ; Sarkozy A ; Muntoni F ; Whalen S ; Vona B ; Houlden H ; Maroofian R |
Material Type: | Article |
Publication Date: | 23/07/2022 |
Languages: | English |
Keywords : | cohort studies ; genotype-phenotype correlation ; GGPS1 gene ; GGPS1 related neuromuscular disease ; muscular dystrophy |
Pubmed / DOI : | Pubmed : 35869884 / DOI : 10.1002/acn3.51633 |
N° Profil MNM : | 2022081 |
Link for e-copy: | http://www.ncbi.nlm.nih.gov/pubmed/35869884 |