Merosin-deficient congenital muscular dystrophy is an autosomal recessive form of muscular dystrophy characterized by muscle weakness apparent at birth or in the first 6 months of life. Patients show hypotonia and delayed motor development; most never achieve independent ambulation.
Genes:
LAMA2
Disorders:
Muscular Dystrophy
Clinical Utility:
Confirmation of a clinical diagnosis, Carrier testing in unaffected family members