Adult onset metabolic/mitochondrial myopathies and dystrophies

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Disclosures Honorarium, Travel Genzyme Shire Amicus Biomarin
Genetic Myopathies Congential Myopathies (nemaline, core, actin, myosin, Ulrich) Congenital Muscular Dystrophies (DM1) Limb Girdle Dystrophies (BMD/DMD, FSHD, LGMD 22) Dystrophic <strong>and</strong> Non-Dystrophic Myotonias (DM1/DM2,Becker myotonia) Distal Myopathies (incl MFM, Myoshi, Nonanka) Metabolic (GSD, Lipid myopathy, Mitochondrial)
Page 1: Adult onset metabolic/mitochondrial
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 and 14: Myotonic dystrophy: Genetics .... C
Page 15 and 16: Dystrophin-Glycoprotein Complex Lam
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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