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A, Pedigree of the family with the c.295T→A mutation, showing the high degree of consanguinity. Affected patients are indicated by blackened squares, proven heterozygotes by half-blackened symbols. B, Clinical presentation of DK1 deficiency. The 6-mo-old girl (ASB) showed profound muscular hypotonia, inflammation and ichthyosis of the skin, nearly complete secondary loss of hair, and severe DCM.
