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

作者信息

Renier W O, Nabben F A, Hustinx T W, Veerkamp J H, Otten B J, Ter Laak H J, Ter Haar B G, Gabreëls F J

出版信息

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

DOI:10.1111/j.1399-0004.1983.tb00078.x
PMID:6315281
Abstract

A family is described with three male sibs suffering from congenital adrenal hypoplasia (CAH). In the two surviving brothers the disease is clinically further characterized by a Duchenne type muscular dystrophy, growth failure and severe mental retardation. Laboratory investigations revealed deficient activities of gonadotrophin and glycerol kinase. The clinical, biochemical and genetic findings in ths exceptional family are reported and discussed.

摘要

相似文献

1
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.
2
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引用本文的文献

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Xp21 contiguous gene deletion syndrome presenting as Duchenne muscular dystrophy and glycerol kinase deficiency associated with intellectual disability: case report and review literature.Xp21 连续基因缺失综合征表现为杜氏肌营养不良症和与智力残疾相关的甘油激酶缺乏症：病例报告和文献复习。
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History of Adrenal Research: From Ancient Anatomy to Contemporary Molecular Biology.肾上腺研究史：从古代解剖学到当代分子生物学。
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3
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.
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Duchenne muscular dystrophy due to familial Xp21 deletion detectable by DNA analysis and flow cytometry.通过DNA分析和流式细胞术可检测到的因家族性Xp21缺失导致的杜氏肌营养不良症。
Hum Genet. 1986 Jun;73(2):175-80. doi: 10.1007/BF00291610.
5
Recently recognized chromosomal defects of clinical importance.近期发现的具有临床重要性的染色体缺陷。
Postgrad Med J. 1986 Feb;62(724):131-42. doi: 10.1136/pgmj.62.724.131.
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Short stature: a common feature in Duchenne muscular dystrophy.
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7
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Mol Cell Biochem. 1988 Jun;81(2):103-19. doi: 10.1007/BF00219313.
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Duchenne muscular dystrophy with adrenal insufficiency and glycerol kinase deficiency: high resolution cytogenetic analysis with molecular, biochemical, and clinical studies.杜氏肌营养不良伴肾上腺皮质功能不全和甘油激酶缺乏症：分子、生化和临床研究的高分辨率细胞遗传学分析
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Localization of the gene for X-linked recessive type of retinitis pigmentosa (XLRP) to Xp21 by linkage analysis.通过连锁分析将X连锁隐性型视网膜色素变性（XLRP）的基因定位到Xp21。
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