Clinical and genetic heterogeneity in chromosome 9p associated hereditary inclusion body myopathy: Exclusion of GNE and three other candidate genes

Giles D.J. Watts, M. Thorne, M. J. Kovach, A. Pestronk, Virginia E. Kimonis

Research output: Contribution to journalArticle

42 Scopus citations

Abstract

We have previously reported a new autosomal dominant inclusion body myopathy clinically resembling limb girdle muscular dystrophy, associated with Paget disease of bone in the majority and frontotemporal dementia in a third of individuals. The critical locus for this unique disorder now termed IBMPFD is 9p21.1-p12, spans 5.5Mb and contains the gene responsible for the recessive quadriceps-sparing inclusion body myopathy (IBM2). Mutation analysis of the GNE gene associated with IBM2 in affected individuals from four IBMPFD families did not identify any mutations, indicating that the two disorders are not allelic. Expression studies indicate that GNE has a tissue-specific splice pattern, with four splice variants. Mutation analysis in three other candidate genes (β-tropomyosin, NDUFB6 and SMU1) did not identify any mutations.

Original languageEnglish
Pages (from-to)559-567
Number of pages9
JournalNeuromuscular Disorders
Volume13
Issue number7-8
DOIs
StatePublished - Sep 2003

Keywords

  • Frontotemporal dementia
  • GNE
  • IBM2
  • Inclusion body myopathy
  • Limb girdle muscular dystrophy
  • Paget disease of the bone

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