Limb-Girdle Muscular Dystrophy and Distal Myopathy
Gene: GAAComment when marking as ready: Metabolic condition with phenotypic overlap.Created: 1 Jul 2020, 8:25 a.m. | Last Modified: 1 Jul 2020, 8:25 a.m.
Panel Version: 0.50
PMID: 29880332 - 16 adult patients (9 families) with Pombe disease. Proximal muscle weakness (12/16) and elevated CK were reported. Muscle biopsy showed vacuoles in 4/9 patients. Patients were described as having LGMD.
Sources: Expert listCreated: 1 Jul 2020, 3:15 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Glycogen storage disease II 232300
Publications
Well reported gene causing Pompe's disease presenting as a metabolic myopathy with multiorgan dysfunction condition. Distinct genotype-phenotype correlation has been established, with age of onset and severity depending on residual GAA activity.Created: 17 Jun 2020, 6:49 a.m. | Last Modified: 17 Jun 2020, 6:49 a.m.
Panel Version: 0.72
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Glycogen storage disease II (MIM#232300)
Publications
Gene: gaa has been classified as Green List (High Evidence).
Gene: gaa has been classified as Green List (High Evidence).
gene: GAA was added gene: GAA was added to Limb Girdle Muscular Dystrophy. Sources: Expert list Mode of inheritance for gene: GAA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GAA were set to PMID: 29880332 Phenotypes for gene: GAA were set to Glycogen storage disease II 232300 Review for gene: GAA was set to GREEN