A novel DMD intronic alteration: a potentially disease-causing variant of an intermediate muscular dystrophy phenotype
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Pathogenic germline variants in DMD gene, which encodes the well-known cytoskeletal protein named dystrophin, are associated with a wide range of dystrophinopathies disorders, such as Duchenne muscular dystrophy (DMD, severe form), Becker muscular dystrophy (B... ...
