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GENATLAS PHENOTYPE
last update : 22-03-2011
Symbol EMD2
Location 1q22
Name Emery-Dreifuss muscular dystrophy 2
Other name(s)
  • muscular dystrophy with early contractures and cardiomyopathy
  • Hauptmann-thannhauser muscular dystrophy
  • Emery-Dreifuss muscular dystrophy 2
    • Corresponding gene LMNA
    Other symbol(s) EDMD2
    Main clinical features
  • early contractures of elbows and Achille tendons, slowly progressive, wasting and weakness in humeroperoneal muscles and a dilated cardiomyopathy with life-threatening conduction blocks
    • Genetic determination autosomal dominant
    autosomal recessive
    Related entries . including asymptomatic cases, rare autosomal recessive cases (OMIM 604929) and rares cases associated with partial lipodystrophy
    Function/system disorder neuromuscular
    Type disease
    Gene product
    Name lamin A/C (LMNA) most mutations in the central rod domain
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    missense     in the splice receptor sequence of the intron 6 causing form with cardiac involvement
    various types     mutation in Ig fold domain (R454W; LB3T-IgRW), possibly affecting the structure and function of normal lamin polymers
    Remark(s)
  • important role of ERK activation caused by LMNA mutations in the development of cardiomyopathy (Muchir 2009)