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Medicina ·
Genética
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X X X Y (a) Chromosome Xp21.2 Dystrophin gene (2.22 Mb, 79 exons) Deletion hot spot (exon 40-54) Exon 46 Exon 47 ? Exon 51 Exon 52 Exon 53 Dystrophin-associated protein complex DYSTROPHIN PROTEIN INTRACELLULAR ACTIN Duchenne’s Muscular Dystrophy Age 2-5 years - Difficulty running Age 4-7 years - Toe walking (Suggestive of tight Tendo Achilles) Gower Maneuver Increased lumbar lordosis (Gowers) (To speak) X-linked recessive on chromosome x Progressive muscular weakness Pseudohypertrophy Calf enlargement Achilles tendon contracture [Mortality - late teens] (Yiu and AJ Kornberg, 2015) [Yiu and AJ Kornberg, 2015]
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X X X Y (a) Chromosome Xp21.2 Dystrophin gene (2.22 Mb, 79 exons) Deletion hot spot (exon 40-54) Exon 46 Exon 47 ? Exon 51 Exon 52 Exon 53 Dystrophin-associated protein complex DYSTROPHIN PROTEIN INTRACELLULAR ACTIN Duchenne’s Muscular Dystrophy Age 2-5 years - Difficulty running Age 4-7 years - Toe walking (Suggestive of tight Tendo Achilles) Gower Maneuver Increased lumbar lordosis (Gowers) (To speak) X-linked recessive on chromosome x Progressive muscular weakness Pseudohypertrophy Calf enlargement Achilles tendon contracture [Mortality - late teens] (Yiu and AJ Kornberg, 2015) [Yiu and AJ Kornberg, 2015]