Case report: a novel deep intronic splice-altering variant in DMD as a cause of Becker muscular dystrophy
Shala Ghaderi Berntsson, Hans Matsson, Anna Kristoffersson, Valter Niemelä et autres
We present the case of a male patient who was ultimately diagnosed with Becker muscular dystrophy (BMD; MIM# 300376 ) after the onset of muscle weakness in his teens progressively led to significant walking difficulties in his twenties. A genetic diagnosis was …
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Frontiers in Genetics