Key result
Co-inheritance of maternal DMD and paternal hyperCKemia genes linked to unusually early and severe DMD.
Case Report (n=1)
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Coincidental inheritance of a maternal DMD gene and a paternal gene causing hyperCKemia may lead to unusually early and severe manifestations of Duchenne muscular dystrophy, including cardiac manifestations like WPW pattern.
A 7-month-old boy with gross motor delay and failure to thrive presented with rhabdomyolysis following an acute asthmatic episode. During hospitalization an electrocardiographic conversion to a Wolff-Parkinson-White type 1 (WPW) pattern took place. Duchenne muscular dystrophy (DMD) was suspected based on elevated creatine kinase (CK) serum levels, muscle biopsy, and family history. The diagnosis was confirmed by molecular analysis, which documented a deletion corresponding to cDNA probe 1-2a in the dystrophin gene, in the propositus and in an affected male cousin of his mother. "Idiopathic" hyperCKemia was found in the propositus, his father, and 5 of his relatives. We suggest that the unusually early and severe manifestations of DMD in this patient may be related to the coincidental inheritance of the maternal DMD gene and of a paternal gene, causing hyperCKemia.
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Frydman et al. (1995) conducted a case report in Duchenne muscular dystrophy and idiopathic hyperCKemia (n=1). Coincidental inheritance of maternal DMD gene and paternal gene causing hyperCKemia was evaluated on Clinical manifestations and diagnosis. Unusually early and severe manifestations of Duchenne muscular dystrophy in a 7-month-old boy may be related to the coincidental inheritance of the maternal DMD gene and a paternal gene causing hyperCKemia.
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