两例表型不同的 HIBM2 患者中新型 GNE 突变。
Novel GNE mutations in two phenotypically distinct HIBM2 patients.
机构信息
Department of Neurology and Hope Center for Neurological Disorders, Washington University School of Medicine, 660 S. Euclid Avenue, Saint Louis, MO 63110, USA.
出版信息
Neuromuscul Disord. 2011 Feb;21(2):102-5. doi: 10.1016/j.nmd.2010.11.002. Epub 2010 Dec 4.
Abstract
Homozygous mutations in the UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE) gene cause hereditary inclusion body myopathy type 2 (HIBM2). We describe two unrelated American patients with novel GNE mutations. While one patient followed a typical disease course for HIBM2 with an onset at age 25 and rimmed vacuole pathology on muscle biopsy, the second patient had several features atypical for HIBM2. This patient's onset was at age 55, included distal weakness, quadriceps sparing and respiratory insufficiency. His muscle biopsy showed prominent necrosis without rimmed vacuoles. This study expands the phenotype and illustrates the clinical spectrum of HIBM2 identified in a U.S. based neuromuscular clinic.
摘要
UDP-N-乙酰氨基葡萄糖 2-差向异构酶/N-乙酰氨基葡萄糖激酶（GNE）基因中的纯合突变可导致遗传性包涵体肌病 2 型（HIBM2）。我们描述了两名具有新 GNE 突变的非相关美国患者。一名患者的发病年龄为 25 岁，肌肉活检显示边缘空泡病理，符合 HIBM2 的典型发病过程；而另一名患者的发病年龄为 55 岁，具有多项非典型 HIBM2 特征，包括远端肌无力、股四头肌不受累和呼吸功能不全。其肌肉活检显示明显的坏死，而无边缘空泡。本研究扩展了美国神经肌肉诊所确定的 HIBM2 的表型，并说明了其临床表现谱。
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