Adult onset metabolic/mitochondrial myopathies and dystrophies

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Duchenne / Becker muscular dystrophy DMD/BMD the most common form of LGMD X-Linked, 1/3000 live male births Mutations in dystrophin gene 1/3 sporadic Manifesting female carriers Muscle, brain, skin each male with limb girdle weakness should first be tested for a dystrophinopathy
Dystrophin-Glycoprotein Complex Laminin-2 a-, b-Dystroglycan ECM Sarcoglycans Sarcospan Caveolin-3 Dysferlin d a b g Sarcolemma Grb2 Dystrobrevin NOS1 Syntrophins Dystrophin DMD / BMD F-Actin Cytoskeleton
Page 1 and 2: Adult onset metabolic/mitochondrial
Page 3 and 4: Genetic Myopathies Congential Myopa
Page 5 and 6: Myositis & Genetic Myopathies: Pote
Page 7 and 8: Genetic Myopathies: Gait
Page 9 and 10: Genetic Myopathies: Laboratory •
Page 11 and 12: Myotonic dystrophy: Clinical Manife
Page 13: Myotonic dystrophy: Genetics .... C
Page 17 and 18: DMD/BMD: Biopsy
Page 19 and 20: Fascioscapulohumeral muscular dystr
Page 21 and 22: LGMD dominant LGMD1A 5q31 Myotilin
Page 23 and 24: LGMD
Page 25 and 26: LGMD 2I - MRI findings A B C Fische
Page 27 and 28: McArdles Myopathy (GSD5): Features
Page 29 and 30: GSDV
Page 31 and 32: POMPE (GSD2): PATHOGENESIS PATHOLOG
Page 33 and 34: LATE-ONSET POMPE DISEASE LatPompe L
Page 35 and 36: DBS aids in early diagnosis The ava
Page 37 and 38: Cardiomyopathy Liver Failure Ophtha
Page 39 and 40: mtDNA mutations: phenotype-genotype
Page 42: Any Questions?

Adult onset metabolic/mitochondrial myopathies and dystrophies

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