Adult onset metabolic/mitochondrial myopathies and dystrophies

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4q35 region DUX4 ce n. ANT1 FRG1 FRG2 p13E11 pLAM Telomere DUX4c SSLP D4Z4 array β-sat A 161 FSHD < 10copies 4q A
LGMD dominant LGMD1A 5q31 Myotilin LGMD1B 1q21 Lamin A/C LGMD1C 3p25 Caveolin-3 LGMD1D 6q23 DNAJB6 LGMD1E 7q ? LGMD1F 7q32 ? LGMD1G 4q21 ? ‣ 90% autosomal recessive (CK- ) ‣ 10% autosomal dominant (CK n- ) LGMD2A LGMD2B LGMD2C LGMD2D LGMD2E LGMD2F LGMD2G LGMD2H LGMD2I LGMD2J LGMD2K LGMD2L LGMD2M LGMD2N LGMD2O recessive 15q15 2p13 13q12 17q12 4q12 5q33 17q11 9q31 19q13 2q 9q34 11p13 9q3 14q24 1p3 Calpain-3 Dysferlin g-Sarcoglycan a-Sarcoglycan b-Sarcoglycan d-Sarcoglycan Telethonin TRIM32 FKRP Titin POMT1 Anoctamin 5 Fukutin POMT2 POMGnT1
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 and 14: Myotonic dystrophy: Genetics .... C
Page 15 and 16: Dystrophin-Glycoprotein Complex Lam
Page 17 and 18: DMD/BMD: Biopsy
Page 19: Fascioscapulohumeral muscular dystr
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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