Amouri R, Driss A, Murayama K, Kefi M, Nishino I, Hentati F
Department of Molecular Neurobiology and Neuropathology, National Institute of Neurology, 1007 La Rabta, Tunis, Tunisia.
Neuromuscul Disord. 2005 May;15(5):361-3. doi: 10.1016/j.nmd.2005.01.012.
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.
常染色体隐性遗传性包涵体肌病（AR-HIBM），股四头肌不受累，其特征为成人起病，下肢远端肌肉无力和萎缩，以及肌肉活检有典型的组织病理学表现。AR hIBM与9号染色体p12-13上的UDP-N-乙酰葡糖胺2-表异构酶/N-乙酰甘露糖胺激酶（GNE）基因突变有关。我们报告了两个突尼斯家族，具有AR HIBM的临床和病理特征。在每个家族的一名患者中发现了一个独特的纯合GNE错义突变M712T，该突变先前在中东犹太患者中报道过，以及一个新发现的突变L379H。我们得出结论，突尼斯的AR HIBM表现出等位基因遗传异质性。
