Limb-Girdle Muscular Dystrophy and Distal Myopathy

Gene: LAMP2

Green List (high evidence)

XLD. Gene encodes lysosome-associated membrane protein-2.

Danon disease is an X-linked dominant disorder predominantly affecting cardiac muscle. Skeletal muscle involvement and mental retardation are variable features. The accumulation of glycogen in muscle and lysosomes originally led to the classification of Danon disease as a variant of glycogen storage disease II (Pompe disease) with 'normal acid maltase' or alpha-glucosidase, however, it may be more accurately classified as a lysosomal disorder.

Created: 13 Apr 2021, 3:20 a.m. | Last Modified: 13 Apr 2021, 3:22 a.m.

Panel Version: 0.7135

Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

Phenotypes
Danon disease, MIM# 300257; MONDO:0010281

I don't know

Primarily presents as a cardiomyopathy condition, skeletal myopathy is less prominent and generally mild. Phenotypic overlap, proximal muscle weakness (85% of patients) (OMIM)

PMID: 27179547: 2 out of 7 affected members of 1 family presented with LGMD.

PMID: 22541782: Reported 2 patients. 1 patient presented with LGMD phenotype. EMG showed myopathic changes.
Sources: Expert Review

Created: 1 Jul 2020, 2:41 a.m.

Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

Phenotypes
Danon disease (MIM#300257)

Publications

• 27179547
• 22541782