TY  - GEN
AU  - Johnson,Katherine
AU  - Töpf,Ana
AU  - Bertoli,Marta
AU  - Phillips,Lauren
AU  - Claeys,Kristl G
AU  - Stojanovic,Vidosava Rakocevic
AU  - Perić,Stojan
AU  - Hahn,Andreas
AU  - Maddison,Paul
AU  - Akay,Ela
AU  - Bastian,Alexandra E
AU  - Łusakowska,Anna
AU  - Kostera-Pruszczyk,Anna
AU  - Lek,Monkol
AU  - Xu,Liwen
AU  - MacArthur,Daniel G
AU  - Straub,Volker
TI  - Identification of GAA variants through whole exome sequencing targeted to a cohort of 606 patients with unexplained limb-girdle muscle weakness
SN  - 1750-1172
PY  - 2018///0720
KW  - Adolescent
KW  - Adult
KW  - Aged
KW  - Aged, 80 and over
KW  - Child
KW  - Child, Preschool
KW  - Cohort Studies
KW  - Female
KW  - Genetic Variation
KW  - genetics
KW  - Glycogen Storage Disease Type II
KW  - diagnosis
KW  - Humans
KW  - Male
KW  - Middle Aged
KW  - Muscle Weakness
KW  - Muscular Dystrophies, Limb-Girdle
KW  - Exome Sequencing
KW  - methods
KW  - Young Adult
KW  - alpha-Glucosidases
N1  - Publication Type: Journal Article
UR  - https://doi.org/10.1186/s13023-017-0722-1
ER  -