Limb-Girdle Muscular Dystrophy and Distal Myopathy
Gene: BAG3Comment when marking as ready: Phenotypic overlap.Created: 29 Jun 2020, 10:21 a.m. | Last Modified: 29 Jun 2020, 10:21 a.m.
Panel Version: 0.25
OMIM notes onset is in late childhood to early teens. Mutation p.Pro209Leu is recurring.
PMID: 25208129 - 1 heterozygous patient with lower limb weakness and onset at 34 years.
PMID: 22734908 - 4 patients with heterozygous mutations.
Patient 1 - onset at 13 years old with lumbar spine rigidity, finger flexion constractures and distal wasting in upper/lower limbs.
Patient 2 - onset 8 years old with muscle stiffness in lower limbs and distal wasting at 12 years old.
Patient 3 - lower limb deformity at 7 years old with declining mobility by 11 years of age.
Patient 4 - Unknown onset but wheelchair bound by 14 years old.
PMID: 30061062 - 1 patient with a de novo mutation, and childhood onset proximal muscle weakness and atrophy, with elevated CK.
Sources: Expert listCreated: 29 Jun 2020, 2:50 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Myopathy, myofibrillar, 6 612954
Publications
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Cardiomyopathy, dilated, 1HH; Myopathy, myofibrillar, 6
Gene: bag3 has been classified as Green List (High Evidence).
Gene: bag3 has been classified as Green List (High Evidence).
gene: BAG3 was added gene: BAG3 was added to Limb Girdle Muscular Dystrophy. Sources: Expert list Mode of inheritance for gene: BAG3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: BAG3 were set to PMID: 25208129; 22734908; 30061062 Phenotypes for gene: BAG3 were set to Myopathy, myofibrillar, 6 612954 Review for gene: BAG3 was set to GREEN