Congenital muscular dystrophy 1A (CMD1A)

Evidence-based neurology checklist on congenital muscular dystrophy 1a (cmd1a): Genetics This is the commonest CMD It is caused by mutations in the laminin alpha-2 (LAMA) gene on chromosome 6q There are >90 mutations The transmission is autosomal recessive Clinical features Creatinine kinase (CK)…

Genetics

  • This is the commonest CMD
  • It is caused by mutations in the laminin alpha-2 (LAMA) gene on chromosome 6q
  • There are >90 mutations
  • The transmission is autosomal recessive

Clinical features

Creatinine kinase (CK)

Magnetic resonance imaging (MRI) brain: features

Echocardiogram

Muscle biopsy: features

References

  1. Buteica E, Rosulescu E, Burada F, Stanoiu B, Zavaleanu M. Merosin-deficient congenital muscular dystrophy type 1A. Rom J Morphol Embryol 2008; 49:229-233.
  2. Mendell JR, Boue DR, Martin PT. The congenital muscular dystrophies: recent advances and molecular insights. Pediatr Dev Pathol 2006; 9:427-443.

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