Tsujino S, Shanske S, Brownell A K, Haller R G, DiMauro S
H. Houston Merritt Clinical Research Center for Muscular Dystrophy and Related Diseases, Department of Neurology, Columbia-Presbyterian Medical Center, New York, NY 10032.
Ann Neurol. 1994 Oct;36(4):661-5. doi: 10.1002/ana.410360418.
We identified two new mutations in 2 white patients with muscle lactate dehydrogenase deficiency. Both patients had exercise intolerance, cramps, and recurrent myoglobinuria. One patient was homozygous for a 2-bp deletion in exon 5, resulting in a frameshift with premature termination of translation. The second patient was homozygous for a G-->A substitution at the 3' end of exon 2, leading to exon skipping and splicing of exon 1 to exon 3; the aberrantly spliced messenger RNA contains a frameshift, resulting in premature termination of translation. The present report provides evidence of molecular genetic heterogeneity in white patients with muscle lactate dehydrogenase deficiency.
我们在2例患有肌肉乳酸脱氢酶缺乏症的白人患者中发现了两种新的突变。两名患者均有运动不耐受、痉挛和复发性肌红蛋白尿。一名患者在外显子5中有一个2碱基对的缺失，为纯合子，导致移码并提前终止翻译。第二名患者在外显子2的3'端有一个G→A替换，为纯合子，导致外显子跳跃以及外显子1与外显子3拼接；异常拼接的信使核糖核酸包含一个移码，导致翻译提前终止。本报告为患有肌肉乳酸脱氢酶缺乏症的白人患者中分子遗传异质性提供了证据。
