Transcription of 東京都立神経病院 松原四郎 - jsnp.jp
1 2019 Shiro MATSUBARA 1 .. 4 .. 4 I.. 4 II.. 5 .. 6 I.. 6 II .. 6 III.. 12 .. 14 I .. 14 II .. 14 III .. 16 .. 17 I .. 17 II .. 17 III.. 18 IV.. 19 .. 19 .. 20 .. 21 2 I.. 21 1. Duchenne (DMD) .. 21 2. Becker (BMD) .. 23 3. Emery-Dreifuss .. 24 4. (facioscapulohumeral muscular dystrophy: FSH) .. 25 5.. 26 6.. 31 7 .. 32 8 .. 33 II.. 36 1. (nemaline myopathy).
2 36 2. (central core disease) .. 37 3.. 37 4.. 38 5. myopathy with tubular aggregate (MTA) .. 38 III.. 39 1. Kearns-Sayre .. 39 2. MELAS .. 40 3. MERRF .. 40 4. Leigh .. 40 5. mtDNA .. 41 .. 41 IV.. 42 1.. 42 2.. 43 3.. 45 V.. 46 1.. 46 2 .. 47 .. 50 I.. 50 .. 50 3 .. 52 .. 52 II.. 53 (polymyositis) .. 54 (dermatomyositis) .. 55 .. 55 .. 55 .. 56 .. 57 ( Inclusion body myositis : IBM ) .. 57 .. 58 III.. 59 .. 59 .. 60 .. 61 4 I.
3 5 II.
4 (ALS)
5 6 I. (ALS) (SPMA) (BSMA) X II DNA 7
6 DNA a. b. c. d. e. f. a. X 2 1 4000 1 3 2 5 8 10
7 10 c. CK 0 A d.
8 9 e. f. ( )
9 T ( ) 10 a. polymyositis CK 1 b. 11
10 A. 8 II III V ( VII ( VIII II V,VII VII DNA DNA DNA (MELAS: mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episode MERRF myoclonus epilepsy with ragged-red fibers DNA 12 a.)))
