麦卡德尔病：分子遗传学新进展。
McArdle disease: molecular genetic update.
作者信息
Andreu A L, Nogales-Gadea G, Cassandrini D, Arenas J, Bruno C
机构信息
Dept. Patologia Mitocondrial i Neuromuscular, Centre d'Investigacions en Bioquímica i Biología Molecular (CIBBIM), Institut de Recerca Vall d'Hebron, Barcelona, Spain.
出版信息
Acta Myol. 2007 Jul;26(1):53-7.
Abstract
McArdle disease or Glycogenosis type V is an autosomal recessive metabolic disorder caused by a deficiency of the muscle isoform of glycogen phosphorylase (myophosphorylase, PYGM), the specific skeletal muscle enzyme that initiates glycogen breakdown. Since the first clinical description by Brian McArdle in 1951, several patients have been identified worldwide and significant advances have been made in the study of molecular genetics of the disease. Molecular heterogeneity has been demonstrated by the identification to date of more than 65 mutations in the PYGM gene.
摘要
麦克尔迪氏病或糖原贮积病V型是一种常染色体隐性代谢紊乱疾病，由糖原磷酸化酶（肌磷酸化酶，PYGM）的肌肉异构体缺乏所致，糖原磷酸化酶是启动糖原分解的特定骨骼肌酶。自1951年布莱恩·麦克尔迪首次进行临床描述以来，全球已确诊了数例患者，并且在该疾病的分子遗传学研究方面取得了重大进展。迄今为止，在PYGM基因中已鉴定出65种以上的突变，这证明了分子异质性。
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本文引用的文献
1
Novel mutation in the PYGM gene resulting in McArdle disease.
Arch Neurol. 2006 Dec;63(12):1782-4. doi: 10.1001/archneur.63.12.1782.
2
McArdle disease: the mutation spectrum of PYGM in a large Italian cohort.
Hum Mutat. 2006 Jul;27(7):718. doi: 10.1002/humu.9434.
3
Variable presentation of the clinical phenotype of McArdle's disease in a kindred harbouring a novel compound genotype in the muscle glycogen phosphorylase gene.
Neurosci Lett. 2005 Dec 31;391(1-2):28-31. doi: 10.1016/j.neulet.2005.08.026. Epub 2005 Sep 9.
4
A novel mutation in the PYGM gene in a family with pseudo-dominant transmission of McArdle disease.
Mol Genet Metab. 2005 Jul;85(3):239-42. doi: 10.1016/j.ymgme.2005.03.002. Epub 2005 Apr 7.
5
A new rare mutation (691delCC/insAAA) in exon 17 of the PYGM gene causing McArdle disease.
Arch Neurol. 2004 Jul;61(7):1108-10. doi: 10.1001/archneur.61.7.1108.
6
Molecular analysis of myophosphorylase deficiency in Dutch patients with McArdle's disease.
Ann Hum Genet. 2004 Jan;68(Pt 1):17-22. doi: 10.1046/j.1529-8817.2003.00067.x.
7
Splicing mosaic of the myophosphorylase gene due to a silent mutation in McArdle disease.
Neurology. 2003 Nov 25;61(10):1432-4. doi: 10.1212/wnl.61.10.1432.
8
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9
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10
Two novel mutations in the muscle glycogen phosphorylase gene in McArdle's disease.
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