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GENATLAS PHENOTYPE
last update : 03-04-2009
Symbol CMD1A
Location 1q22
Name cardiomyopathy, dilated 1A
Other name(s) cardiomyopathy, familial idiopathic
Corresponding gene LMNA
Other symbol(s) DCCD1
Main clinical features
  • progressive disturbance in atrioventricular conduction and depression of cardiac contractility, without conduction system disease, in any cases isolated left ventricular noncompaction
    • Genetic determination autosomal dominant
    Related entries including atrial fibrillation, early-onset (OMIM 607554)
    Function/system disorder cardiovascular
    neuromuscular
    Type disease
    Gene product
    Name laminin A/C (LMNA)
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    unknown   unknown especially in the central rod domain
    missense     D192G associated with morphological changes of the cardiomyocytes nucleus, influencing the spatial organization of lamin intranuclear speeckles
    missense     R349L and R190W mutations leading to severe forms of familial dilated cardiomyopathy
    Remark(s) . important role of ERK activation caused by LMNA mutations in the development of cardiomyopathy (Muchir 2009)