Limb-Girdle Muscular Dystrophy and Distal Myopathy
Gene: LAMP2
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
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 ReviewCreated: 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
Gene: lamp2 has been classified as Amber List (Moderate Evidence).
Gene: lamp2 has been classified as Amber List (Moderate Evidence).
gene: LAMP2 was added gene: LAMP2 was added to Limb Girdle Muscular Dystrophy. Sources: Expert Review Mode of inheritance for gene: LAMP2 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: LAMP2 were set to 27179547; 22541782 Phenotypes for gene: LAMP2 were set to Danon disease (MIM#300257) Review for gene: LAMP2 was set to AMBER