title: Allelic heterogeneity of GNE gene mutation in two Tunisian families with autosomal recessive inclusion body myopathy.
abstract: Autosomal recessive hereditary inclusion body myopathy (AR-HIBM), with sparing of the quadriceps, is characterized by adult-onset, with weakness and atrophy of distal lower limb muscles, and typical histopathological findings in muscle biopsy. AR hIBM is associated with mutations in the UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE) gene on chromosome 9p12-13 . We report two unrelated Tunisian families with clinical and pathological features of AR HIBM. One distinct homozygous GNE missense mutation, M712T, previously reported in Middle Eastern Jewish patients, and a newly identified one, L379H, were found in one patient from each family. We conclude that AR HIBM in Tunisia shows an allelic genetic heterogeneity.
authors.affiliation: Department of Molecular Neurobiology and Neuropathology, National Institute of Neurology, 1007 La Rabta, Tunis, Tunisia. rim.sam@gnet.tn
authors.forename: R
authors.initials: R
authors.lastname: Amouri
authors.forename: A
authors.initials: A
authors.lastname: Driss
authors.forename: K
authors.initials: K
authors.lastname: Murayama
authors.forename: M
authors.initials: M
authors.lastname: Kefi
authors.forename: I
authors.initials: I
authors.lastname: Nishino
authors.forename: F
authors.initials: F
authors.lastname: Hentati
mesh_terms: D000328:Adult; D004252:DNA Mutational Analysis / Q000379:methods; D020821:Dystonic Disorders / Q000235:genetics*; D005121:Extremities / Q000503:physiopathology; D005192:Family Health; D005260:Female; D006639:Histidine / Q000235:genetics; D006801:Humans; D007930:Leucine / Q000235:genetics; D008297:Male; D008715:Methionine / Q000235:genetics; D008875:Middle Aged; D009097:Multienzyme Complexes / Q000235:genetics*; D018482:Muscle, Skeletal / Q000473:pathology; D009154:Mutation; D018979:Myositis, Inclusion Body / Q000235:genetics*; D013194:Staining and Labeling / Q000379:methods; D013912:Threonine / Q000235:genetics; D014416:Tunisia / Q000453:epidemiology
chemical_list: D009097:Multienzyme Complexes; C482901:UDP-N-acetylglucosamine 2-epimerase - N-acetylmannosamine kinase; D013912:Threonine; D006639:Histidine; D008715:Methionine; D007930:Leucine