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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 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 |