Mutation in the gene encoding Dystrophin is known to cause all the following Except
Dystrophin links the actin cytoskeleton to the ECM and appears to be needed for assembly of the synaptic junction. Impairment of these processes by the formation of defective dystrophin is thought to be critical in the causation of Duchenne muscular dystrophy.Dystrophin is of special interest. Mutations in the gene encoding this protein have been shown to be the cause of Duchenne muscular dystrophy and the milder Becker muscular dystrophy. They are also implicated in some cases ofdilated cardiomyopathy.Ref: Harper&;s Biochemistry; 30th edition; Chapter 51; Muscle & the Cytoskeleton
Duchenne muscular dystrophy
Becker muscular dystrophy
Dilated cardiomyopathy
Hyperophic cardiomyopathy
miscellaneous