Adult onset metabolic/mitochondrial myopathies and dystrophies

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Mitochondrial DNA (mtDNA) • covalently-closed DNA molecule (16.6 kb) • located in mitochondrial matrix • high copy number • maternally-inherited • vulnerable to ROS-induced mutation • Replication, transcription and translation mediated by nuclear gene products • Unique genetics Tuppen et al. Biochim Biophys Acta 2010;1797;113-128
mtDNA mutations: phenotype-genotype correlation m.1624C>T – LS m.1555A>G – deafness O H m.14709T>C – myopathy, weakness, diabetes m.3243A>G - MELAS/MIDD/CPEO m.3271T>C – MELAS m.14484T>C – LHON m.14459G>A, m.14487T>C – LS m.3460G>A - LHON several mutations - MELAS m.13513G>A and other mutations MELAS, LS and overlap syndromes m.4300A>G cardiomyopathy m.5545C>T multisystemic disorder, RC deficiency 4,977-bp deletion CPEO/KSS/PS m.11777C>A – LS m.11778G>A – LHON m.7445A>G, m.7472Cins deafness, myopathy m.10158T>C, m.10191T>C, m.10197G>A LS/Leigh-like syndrome m.8344A>G, m.8356T>C MERRF m.8993T>G/C, m.9176T>G/C NARP/MILS
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 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: Cardiomyopathy Liver Failure Ophtha
Page 42: Any Questions?

Adult onset metabolic/mitochondrial myopathies and dystrophies

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