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GENATLAS PHENOTYPE
last update : 11-03-2015
Symbol MDC1A
Location 6q22.33
Name muscular dystrophy, congenital merosin-deficient 1A
Corresponding gene LAMA2
Other symbol(s) MCMD
Main clinical features
  • characterized by severe flopiness at birth, inability to achieve independent ambulation, markedly raised creatine kinase, neuropathy, epilepsy, white matter changes on MRI and disturbed neuronal migration (agyria or pachygyria), with normal intelligence or cognitive impairment
    • Genetic determination autosomal dominant
    Related entries . including milder forms of limb-girdle muscular dystrophy when the mutations do not completely disrupt the production of protein, also associated in some cases with mental retardation and seizures
    Function/system disorder neuromuscular
    Type disease
    Gene product
    Name laminin alpha 2, component of merosin (LAMA2)
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    deletion     encompassing exon 56, was seen to be very frequent
    Remark(s)
  • increased susceptibility to cell death thus appears to be an intrinsic property of human laminin-alpha2-deficient myotubes (PMID: 19692349 )
  • enhanced autophagic activity is pathogenic in LAMA2-deficient muscle, and autophagy inhibition holds a promising therapeutic potential in the treatment of MDC1A (PMID: 21920942))