TY  - GEN
AU  - Mroczek,Magdalena
AU  - Durmus,Hacer
AU  - Bijarnia-Mahay,Sunita
AU  - Töpf,Ana
AU  - Ghaoui,Roula
AU  - Bryen,Samantha
AU  - Duff,Jennifer
AU  - England,Eleina
AU  - Cooper,Sandra T
AU  - MacArthur,Daniel G
AU  - Straub,Volker
TI  - Expanding the disease phenotype of ADSSL1-associated myopathy in non-Korean patients
SN  - 1873-2364
PY  - 2021///0726
KW  - Adenylosuccinate Synthase
KW  - genetics
KW  - Adolescent
KW  - Adult
KW  - Consanguinity
KW  - Distal Myopathies
KW  - Female
KW  - Humans
KW  - India
KW  - Male
KW  - Pedigree
KW  - Phenotype
KW  - Turkey
N1  - Publication Type: Case Reports; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't; Journal Article
UR  - https://doi.org/10.1016/j.nmd.2020.02.006
ER  -