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January 2003 CMT gene mutations Type 2B: RAB7 Type 4B2: SBF2 December 2002 CMT, Type IC: LITAF gene mutations August 2002 FSH muscular dystrophy: Possible disease mechanisms May 2002 Hirschsprung megacolon Hirschsprung congenital megacolon may be caused by trigenic inheritance April 2002 Myotonic Dystrophy Myotonia is caused by altered splicing of chloride channel RNA January & June 2002 Lamin A/C: One gene, Six clinical syndromes Emery-Dreifuss Dystrophy, Type 2; Lipodystrophy; LGMD 1B; CMT, Recessive, Axonal; Dilated cardiomyopathy; Mandibuloacral dysplasia Also see: Previous headlines | |||
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February
2003 Axonal sensory PN: Immune IgM vs TS-HDS |
January 2003 Axonal swellings BSMA Bulbar dysfunction Cardiomyopathy, Dilated CIDP variants CMT 2B CMT 4B2 Cold-induced sweating CV: Pestronk Endocrine disease Friedreich ataxia Giant axonal neuropathy HMSN Comparative features Lab testing Mitochondrial disorders mtDNA depletion Leigh syndrome French-Canadian SDHA LHON Sensory neuropathy Pipestem capillaries Refsum: PEX7 Requisition: Serum tests Selenium deficiency Syphilis Stiffperson syndrome Tendon reflexes Toxic myopathies Ethanol Vocal cord disorders |
December CMD + Cerebellar cysts CMT IA IC 4A Axonal Recessive 2A P0 mutations Dyggve-Melchior-Clausen HTLV I Long QT syndromes MG, congenital dAChR subunit mutations Congenital + Acquired Oculodentodigital dysplasia SCA: FGF14 mutation SPG: Recessive Toxic neuropathies Ethylene glycol Thalidomide l 1996-2002 Revisions |
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