Limb-Girdle Muscular Dystrophy and Distal Myopathy
Gene: PFKMComment when marking as ready: Some phenotypic overlap.Created: 29 Jun 2020, 10:51 a.m. | Last Modified: 29 Jun 2020, 10:51 a.m.
Panel Version: 0.35
Metabolic myopathy gene due to accumulation of glycogen in muscle tissue. Unsure if consisten with LGMD phenotype.
PMID: 24427140: Adult patient reported with lifelong muscle weakness.
PMID: 27066546: 2 siblings reported with glycogen storage disease. Juvenile onset exercise intolerance. Muscle biopsy showed myopathic changes in both siblings.
PMID: 30792690: 1 adult patient reported, onset at 33. Presented with mild proximal muscle weakness, mainly in the lower limbs.
Sources: Expert ReviewCreated: 29 Jun 2020, 6:27 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Glycogen storage disease VII (MIM#232800)
Publications
Gene: pfkm has been classified as Amber List (Moderate Evidence).
Gene: pfkm has been classified as Amber List (Moderate Evidence).
gene: PFKM was added gene: PFKM was added to Limb Girdle Muscular Dystrophy. Sources: Expert Review Mode of inheritance for gene: PFKM was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PFKM were set to 24427140; 27066546; 30792690 Phenotypes for gene: PFKM were set to Glycogen storage disease VII (MIM#232800) Review for gene: PFKM was set to AMBER