Cardiac involvement in a patient with congenital muscular dystrophy related to POMT2 gene mutation


Dystroglycanopathies are a genetically heterogeneous group of congenital muscular dystrophies (CMD) with autosomal recessive inheritance, presenting with a broad spectrum of phenotypes. Cardiac involvement appears to frequently occur in patients with FKRP and FKTN gene mutations. To date, only two unrelated patients with CMD due to POMT2 mutations and cardiac involvement have been reported. We describe a boy with clinical history of delayed motor milestones, proximal weakness, intellectual disability and cardiac involvement.


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