Neuromuscular

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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

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8/20/2002