Investigation of childhood onset distal myopathy myosin variants

儿童期发病的远端肌病肌球蛋白变异的调查

• 批准号: nhmrc : 254544
• 负责人: Prof Nigel Laing
• 金额: $ 15.7万
• 依托单位国家: 澳大利亚
• 项目类别: NHMRC Project Grants
• 财政年份: 2003
• 资助国家: 澳大利亚
• 起止时间: 2003-01-01 至 2005-12-31
• 项目状态: 已结题
• 来源: https://researchdata.edu.au/investigation-childhood-onset-myosin-variants/98905
• 关键词: Investigation; childhood; onset; distal; myopathy

This project aims to continue the research of this laboratory into the distal myopathies, a group of largely enigmatic genetic disorders, which most severely affect selected distal limb muscles, in other words mostly hand and foot muscles. The project has two parts. The first part aims to determine what causes the childhood onset distal myopathy which we first identified in a West Australian family. We localised the disease gene in this family to chromosome 14 in the first linkage of a distal myopathy and researching this family and similar families from Europe we may have identified the gene. This project aims to prove that the candidate disease gene is the disease gene. The second part of the project aims to investigate another unknown distal myopathy in another Australian family, to try to localise and identify this disease gene.

该项目旨在继续该实验室对远端肌病的研究，这是一组在很大程度上神秘的遗传疾病，最严重地影响选定的远端肢体肌肉，换句话说，主要是手和脚的肌肉。该项目有两个部分。第一部分的目的是确定是什么原因导致的儿童发病远端肌病，我们首先确定在西澳大利亚州的家庭。我们将该家族的疾病基因定位于远端肌病的第一个连锁中的14号染色体，并研究了该家族和来自欧洲的类似家族，我们可能已经确定了该基因。本项目旨在证明候选致病基因就是致病基因。该项目的第二部分旨在调查另一个澳大利亚家庭中另一种未知的远端肌病，试图定位和识别这种疾病的基因。