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Diseases

Genetic and Rare Diseases Information Center (GARD)

Muscular dystrophy, congenital, megaconial type


Other Names for this Disease
  • Congenital megaconial myopathy
  • Congenital muscular dystrophy due to phosphatidylcholine biosynthesis defect
  • Congenital muscular dystrophy with mitochondrial structural abnormalities
  • Megaconial congénital muscular dystrophy
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Tests & Diagnosis

On this page

Testing

  • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
Other Names for this Disease
  • Congenital megaconial myopathy
  • Congenital muscular dystrophy due to phosphatidylcholine biosynthesis defect
  • Congenital muscular dystrophy with mitochondrial structural abnormalities
  • Megaconial congénital muscular dystrophy
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.