• L R Peddareddygari, B H Pillai, D Nochlin, L R Sharer, and R P Grewal.
• Neurogenetics Foundation, Cranbury, New Jersey, USA.
• Afr Health Sci. 2011 Dec 1; 11 (4): 607609607-9.

BackgroundThe dystrophinopathies, duchenne muscular dystrophy (DMD) and Becker muscular dystrophy are common X-linked genetic myopathies resulting from mutations in the dystrophin gene. Duplication is an uncommon mechanism of mutation occurring in about 5% of DMD cases. The global prevalence of DMD is reported as 1/18,000 males. There is little clinical or epidemiological data on African patients.ObjectiveTo present the genotype-phenotype analysis of dystrophinopathy with an exon 8 through 9 duplication mutation in a patient of African/Ghanaian descent and his asymptomatic mother.MethodsInvestigations including a biopsy of the vastus lateralis muscle and genetic testing of the patient and his mother.ResultsGenetic testing demonstrated a duplication of exons 8 through 9 of the dystrophin gene in both the patient and his mother. The muscle biopsy of the patient showed partial expression of the dystrophin protein. In the absence of a family history of dystrophinopathy, we hypothesize that this is a sporadic mutation occurring in the grand maternal lineage.ConclusionThis case extends the world wide epidemiology of this disease to include the African/Ghanaian population and confirms the vulnerability of the dystrophin gene to recurrent spontaneous mutations at the exon 8 and 9 site.

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