A dystrophin missense mutation showing persistence of dystrophin and dystrophin‐associated proteins yet a severe phenotype

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Abstract
A muscle biopsy from an X‐linked muscular dystrophy pedigree showed normal dystrophin and dystrophinassociated proteins. Linkage to multiple markers within the dystrophin gene (LOD = 2.7, ⊖ = O) 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.