Muscular dystrophy
From SNPedia
There are several different types of muscular dystrophy.
- Congenital muscular dystrophy is due to partial deficiency of the laminin alpha 2 (LAMA2) protein.
- Congenital muscular dystrophy type 1C includes neurological abnormalities. The following SNPs are in the fukutin-related protein (FKRP) gene.
- Duchenne muscular dystrophy (DMD) is a severe X-linked form.
- Emery-Dreifuss muscular dystrophy is an autosomal recessive condition.
- Limb-girdle muscular dystrophy is found in various types.
- Oculopharyngeal muscular dystrophy (OPMD) is most common in people with French-Canadian ancestry. OPMD is caused by mutations in the poly(A)-binding protein-2 (PABPN1) gene.
- Ullrich scleroatonic muscular dystrophy (UCMD) is an autosomal recessive congenital myopathy.
