新型 MPZ 突变与先天性髓鞘生成不良性神经病。
Novel MPZ mutations and congenital hypomyelinating neuropathy.
机构信息
Department of Neurology, Children's Hospital Boston, Harvard Medical School, Boston, MA 02115, United States.
出版信息
Neuromuscul Disord. 2010 Nov;20(11):725-9. doi: 10.1016/j.nmd.2010.06.004.
Abstract
We report two new MPZ mutations causing congenital hypomyelinating neuropathies; c.368_382delGCACGTTCACTTGTG (in-frame deletion of five amino acids) and c.392A>G, Asn131Ser. Each child had clinical and electrodiagnostic features consistent with an inherited neuropathy, confirmed by sural nerve biopsy. The cases illustrate the clinically heterogeneity that exists even within early-onset forms of this disease. They also lend additional support to the emerging clinical and laboratory evidence that impaired intracellular protein trafficking may represent the cause of some congenital hypomyelinating neuropathies.
摘要
我们报道了两个新的 MPZ 突变导致先天性轴索性神经病；c.368_382delGCACGTTCACTTGTG（框内缺失五个氨基酸）和 c.392A>G，天冬酰胺 131 丝氨酸。每个孩子都有临床和电诊断特征与遗传性神经病一致，通过腓肠神经活检证实。这些病例说明了即使在这种疾病的早期发病形式中，也存在临床异质性。它们还为新兴的临床和实验室证据提供了额外的支持，即细胞内蛋白质转运受损可能是一些先天性轴索性神经病的原因。
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