A dystrophin missense mutation showing persistence of dystrophin and dystrophin-associated proteins yet a severe phenotype.
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Goldberg LR, Hausmanowa-Petrusewicz I, Fidzianska A, Duggan DJ, Steinberg LS, Hoffman EP
A dystrophin missense mutation showing persistence of dystrophin and dystrophin-associated proteins yet a severe phenotype.
Ann Neurol. 1998 Dec;44(6):971-6. doi: 10.1002/ana.410440619.
- PubMed ID
- 9851445 [ View in PubMed]
- Abstract
A muscle biopsy from an X-linked muscular dystrophy pedigree showed normal dystrophin and dystrophin-associated proteins. Linkage to multiple markers within the dystrophin gene (LOD=2.7, theta=0) indicated a primary dystrophinopathy. Sequencing of the entire dystrophin RNA revealed a single missense mutation (D3335H) in the unique carboxyl-terminal domain. This is the first report showing that a relatively severe dystrophinopathy can occur despite the correct localization of dystrophin and dystrophin-associated proteins.