TOPICS: Duchenne muscular dystrophy, Becker muscular dystrophy, myotonic muscular dystrophy, Rett syndrome, Fragile X syndrome, hypophosphatemic rickets, Alport syndrome, ornithine transcarbamylase deficiency, X-linked adrenoleukodystrophy, Hunter syndrome, ocular albinism, Bruton agammaglobulinemia, Wiskott-Aldrich syndrome, Lesch-Nyhan syndrome, Hyper-IgM syndrome, hemophilia A, hemophilia B, severe combined immunodeficiency (SCID), Menkes disease, G6PD deficiency, Fabry disease, dystrophin protein, muscular dystrophies pathophysiology, muscular dystrophies clinical features, muscular dystrophies diagnosis, frameshift mutations, molecular testing, creatinine kinase (CK), Gower sign, calf pseudohypertrophy, dilated cardiomyopathy, progressive muscle weakness, myonecrosis, dystrophin gene (DMD) mutation, nonsense mutations, actin, spontaneous mutations
