Fukuyama muscular dystrophy associated with lack of C-terminal domain of dystrophin

Abstract 

The first reported female patient with the Fukuyama type of congenital muscular dystrophy associated with a lack of C-terminal domain of dystrophin is presented. Clinically, the patient had characteristic features and magnetic resonance imaging findings of Fukuyama muscular dystrophy. Dystrophin analysis revealed a lack of the C-terminal domain but preserved N-terminal and rod domains of dystrophin in biopsied muscle. Moreover, she had reduced expression of merosin, syntrophin, and β-dystroglycan in the skeletal muscle. Reverse transcriptase-polymerase chain reaction analysis of mRNA in the patient’s muscle illustrated a complete lack of exons 71-74 of the dystrophin gene. These deletions, which remove the β-dystroglycan and syntrophin binding site, may cause changes in the function of both β-dystroglycan and syntrophin in human muscle.