Muscular Dystrophy, Limb-Girdle, Type 2g malady
Categories: Genetic diseases, Rare diseases, Neuronal diseases, Muscle diseases
Aliases & Descriptions for Muscular Dystrophy, Limb-Girdle, Type 2g:
Orphanet epidemiological data:52
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Childhood,Infancy
muscular dystrophy, limb-girdle, type 2g:
Inheritance: autosomal recessive inheritance
Global: Genetic diseases, Rare diseases
Anatomical: Neuronal diseases, Muscle diseases
Rare neurological diseases
UniProtKB/Swiss-Prot:68 Limb-girdle muscular dystrophy 2G: An autosomal recessive degenerative myopathy characterized by proximal and distal muscle weakness and atrophy in the limbs, dystrophic changes on muscle biopsy, and absence of telethonin. Cardiac muscle is involved in a subset of patients.
MalaCards based summary: Muscular Dystrophy, Limb-Girdle, Type 2g, also known as lgmd2g, is related to limb-girdle muscular dystrophy and muscular dystrophy, and has symptoms including difficulty walking, areflexia of lower limbs and elevated serum creatine phosphokinase. An important gene associated with Muscular Dystrophy, Limb-Girdle, Type 2g is TCAP (Titin-Cap).
Description from OMIM:50 601954
HPO human phenotypes related to Muscular Dystrophy, Limb-Girdle, Type 2g:(show all 15)
Clinvar genetic disease variations for Muscular Dystrophy, Limb-Girdle, Type 2g:5
Search GEO for disease gene expression data for Muscular Dystrophy, Limb-Girdle, Type 2g.
29ICD10 via Orphanet
38MESH via Orphanet
51OMIM via Orphanet
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
67UMLS via Orphanet