Limb-Girdle Muscular Dystrophy and Distal Myopathy

Gene: BAG3

Comment 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

Green List (high evidence)

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 list

Created: 29 Jun 2020, 2:50 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Myopathy, myofibrillar, 6 612954

Publications

• PMID: 25208129
• 22734908
• 30061062

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Cardiomyopathy, dilated, 1HH; Myopathy, myofibrillar, 6