Home Page
References OMIM Gene GeneReviews HGMD HGNC
GENATLAS PHENOTYPE
last update : 25-02-2009
Symbol LGMD1C
Location 3p25
Name limb-girdle muscular dystrophy 1C
Other name(s)
  • caveolin 3 deficiency
  • caveolinopathy
    • Corresponding gene CAV3
    Other symbol(s) CMH
    Main clinical features
  • onset usually in the first decade, mild-to-moderate proximal muscle weakness, calf hypertrophy, absent ankle deep-tendon reflexes and variable muscle cramps after exercise
  • elevated creatine-kinase values
    • Genetic determination autosomal dominant
    autosomal recessive
    Related entries including cases with isolated hypertrophic cardiomyopathy [CMH, MIM : 192600], and isolated hyperCKemias
    Function/system disorder neuromuscular
    Type disease
    Gene product
    Name caveolin 3
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    various types     Thr63Ser associated with hypertrophic cardiomyopathy
    Remark(s) Rippling muscle disease (RMD2, MIM : 606072) is an allelic disorder
    Genotype/Phenotype correlations Caveolin-3 deficiency or caveolinopathies includes five phenotypes, which can be seen in different members of the same family : Limb-Girdle Muscular Dystrophy 1C [LGMD1C, MIM : 607801] CAV3-Related Isolated HyperCKemia [MIM : 123320], CAV3-Related Rippling Muscle Disease [RMD, MIM : 606072], CAV3-Related Distal Myopathy, CAV3-Related Hypertrophic Cardiomyopathy [CMH, MIM : 192600]