Home Page
References OMIM Gene GeneReviews HGMD HGNC
GENATLAS PHENOTYPE
last update : 30/03/2006
Symbol CMD3B
Location Xp21.1
Name cardiomyopathy, dilated 3B
Corresponding gene DMD
Other symbol(s) XLCM
Main clinical features
  • dystrophin deficiency resulting in a loss of alpha dystroglycan membrane binding, not associated with muscular dystrophy
    • Genetic determination sex linked
    Function/system disorder cardiovascular
    neuromuscular
    Type disease
    Gene product
    Name dystrophin (DMD)
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    missense   truncated protein in one family, a translation-termination mutation (C4148T) in exon 29 in a large family
    Remark(s) a novel Alu-like element rearranged in intron 11