Article
Primary adhalin deficiency as a cause of muscular dystrophy in patients with normal dystrophin.
Annals of neurology - 1 Sept 1995
Ljunggren A, Duggan D, McNally E, Boylan K B, Gama C H, Kunkel L M, Hoffman E P
Abstract excerpt
In our experience, more than half of muscular dystrophy patients show a primary dystrophinopathy. The underlying cause of muscular dystrophy in the vast majority of patients with normal dystrophin is unknown. Recently, a French family with 4 young siblings showing a muscular dystrophy of unknown progression was shown to have a primary deficiency of "adhalin," the 50-kd dystrophin-associated protein. Here we...
Topics
- Adolescent
- Base Sequence
- Cytoskeletal Proteins
- Dystrophin
- Female
- Humans
- Membrane Glycoproteins
- Molecular Sequence Data
- Muscles
- Muscular Dystrophies
- Mutation