Identification of GAA variants through whole exome sequencing targeted to a cohort of 606 patients with unexplained limb-girdle muscle weakness.

Johnson, Katherine

Identification of GAA variants through whole exome sequencing targeted to a cohort of 606 patients with unexplained limb-girdle muscle weakness. [electronic resource] - Orphanet journal of rare diseases 11 2017 - 173 p. digital

Publication Type: Journal Article

1750-1172

10.1186/s13023-017-0722-1 doi


Adolescent
Adult
Aged
Aged, 80 and over
Child
Child, Preschool
Cohort Studies
Female
Genetic Variation--genetics
Glycogen Storage Disease Type II--diagnosis
Humans
Male
Middle Aged
Muscle Weakness--diagnosis
Muscular Dystrophies, Limb-Girdle--diagnosis
Exome Sequencing--methods
Young Adult
alpha-Glucosidases--genetics