纯合子核纤层蛋白A/C基因无义突变的致死表型  

The lethal phenotype of a homozygous nonsense mutation in the lamin A/C gene

作　　者：Van Engelen B.G.M. Muchir A. Hutchison C.J. 张玉龙 

机构地区：[1]Nijmegen Institute of Neurology, Department of Pathology, University Medical Centre Nijmegen, 6500 HB Nijmegen, Netherlands Dr.

出　　处：《世界核心医学期刊文摘（神经病学分册）》2005年第6期48-48,共1页Digest of the World Core Medical Journals:Clinical Neurology

摘　　要：The authors report the clinical and histologic phenotypes of a LGMD1B family including a newborn child with a homozygous LMNA nonsense mutation (Y259X). At the heterozygous state the nonsense mutation leads to a classic LGMD1B phenotype; the homozygous LMNA nonsense mutation causes a lethal phenotype.The authors report the clinical and histologic phenotypes of a LGMD1B family including a newborn child with a homozygous LMNA nonsense mutation (Y259X). At the heterozygous state the nonsense mutation leads to a classic LGMD1B phenotype; the homozygous LMNA nonsense mutation causes a lethal phenotype.

关 键 词：C基因 无义突变 核纤层蛋白 纯合子 

分 类 号：R394[医药卫生—医学遗传学]