复杂型甘油激酶缺乏症患者肌肉中抗肌萎缩蛋白染色呈阴性。 - Suppr | 超能文献

Negative dystrophin staining in muscles of patients with complex glycerol kinase deficiency.

作者信息

Tonoki H, Fujieda K, Kajii N, Ozutsumi K, Nagano S, Niikawa N

机构信息

Department of Pediatrics, Hokkaido University School of Medicine, Sapporo, Japan.

出版信息

J Pediatr. 1990 Aug;117(2 Pt 1):268-71. doi: 10.1016/s0022-3476(05)80545-1.

DOI:10.1016/s0022-3476(05)80545-1

Abstract

摘要

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Negative dystrophin staining in muscles of patients with complex glycerol kinase deficiency.复杂型甘油激酶缺乏症患者肌肉中抗肌萎缩蛋白染色呈阴性。

J Pediatr. 1990 Aug;117(2 Pt 1):268-71. doi: 10.1016/s0022-3476(05)80545-1.

2

A case with the infantile type of glycerol kinase deficiency.一例婴儿型甘油激酶缺乏症病例。

Acta Paediatr Jpn. 1987 Jun;29(3):465-8. doi: 10.1111/j.1442-200x.1987.tb00347.x.

3

Characterization of patients with glycerol kinase deficiency utilizing cDNA probes for the Duchenne muscular dystrophy locus.利用针对杜氏肌营养不良症基因座的cDNA探针来鉴定甘油激酶缺乏症患者。

Hum Genet. 1989 Sep;83(2):122-6. doi: 10.1007/BF00286703.

4

Myopathy in complex glycerol kinase deficiency patients is due to 3' deletions of the dystrophin gene.复杂型甘油激酶缺乏症患者的肌病是由于肌营养不良蛋白基因的3'端缺失所致。

Am J Hum Genet. 1988 Aug;43(2):126-30.

5

Complementary DNA probes for the Duchenne muscular dystrophy locus demonstrate a previously undetectable deletion in a patient with dystrophic myopathy, glycerol kinase deficiency, and congenital adrenal hypoplasia.用于杜兴氏肌营养不良基因座的互补DNA探针显示，一名患有营养不良性肌病、甘油激酶缺乏症和先天性肾上腺发育不全的患者存在以前无法检测到的缺失。

J Clin Invest. 1989 Jan;83(1):95-9. doi: 10.1172/JCI113890.

6

Congenital adrenal hypoplasia, progressive muscular dystrophy, and severe mental retardation, in association with glycerol kinase deficiency, in male sibs.

Clin Genet. 1983 Oct;24(4):243-51. doi: 10.1111/j.1399-0004.1983.tb00078.x.

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Normal and dystrophin-deficient muscle fibers in carriers of the gene for Duchenne muscular dystrophy.杜兴氏肌营养不良症基因携带者的正常和缺乏肌营养不良蛋白的肌纤维。

Am J Pathol. 1988 Dec;133(3):440-5.

8

Duchenne muscular dystrophy in a girl identified by dystrophin deficiency.一名因肌营养不良蛋白缺乏而确诊的女孩患有杜氏肌营养不良症。

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Duchenne muscular dystrophy, glycerol kinase deficiency, and adrenal insufficiency associated with Xp21 interstitial deletion.

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Deletion on the X chromosome detected by direct DNA analysis in one of two unrelated boys with glycerol kinase deficiency, adrenal hypoplasia, and Duchenne muscular dystrophy.

Lancet. 1986 Mar 15;1(8481):585-7. doi: 10.1016/s0140-6736(86)92811-4.

引用本文的文献

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Isolated and contiguous glycerol kinase gene disorders: a review.孤立性和连续性甘油激酶基因疾病：综述

J Inherit Metab Dis. 2000 Sep;23(6):529-47. doi: 10.1023/a:1005660826652.

2

A symptomatic female patient with Duchenne muscular dystrophy diagnosed by dystrophin-staining: a case report.一名通过抗肌萎缩蛋白染色确诊为杜氏肌营养不良症的有症状女性患者：病例报告

Eur J Pediatr. 1992 Jan;151(1):66-8. doi: 10.1007/BF02073897.