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 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 2002 Lamin A/C: One gene, Five clinical syndromes Emery-Dreifuss Dystrophy, Type 2; Lipodystrophy; LGMD 1B; CMT, Recessive, Axonal; Dilated cardiomyopathy November 2001 Hereditary ALS-like disorders Upper Motor Neuron disorders & GTPase related gene mutations ALS2, PLS and SPG3A Dominant ALS linked to chromosome 18q October 2001 Treatable ALS-variant syndromes Motor Neuropathy with IgM binding to GalNAc-GD1a ganglioside HIV-associated Motor syndromes August 2001 Repeat expansions in transcribed but untranslated DNA Myotonic dystrophy 2/PROMM: CCTG repeat expansion in ZNF9 gene CMT with intermediate NCV: Multiple genetic loci July 2001 New genes for PEO syndromes: POLG (15q), Twinkle (10q) & tRNAAla (Mitochondrial) Same gene: Different clinical phenotypes Caveolin-3: LGMD 1C; Hyper-CKemia; Rippling muscles Collagen VI A2: Ullrich congenital muscular dystrophy; Bethlem myopathy | |||
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