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| Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.47 | LAMP2 | Zornitza Stark Marked gene: LAMP2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.47 | LAMP2 | Zornitza Stark Gene: lamp2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.47 | LAMP2 | Zornitza Stark Classified gene: LAMP2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.47 | LAMP2 | Zornitza Stark Gene: lamp2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.35 | LAMP2 |
Crystle Lee 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 Added comment: 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 |
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