Investigation of childhood onset distal myopathy myosin variants

该项目旨在继续该实验室对远端肌病的研究，这是一组很大程度上神秘的遗传性疾病，对选定的远端肢体肌肉（即主要是手部和足部肌肉）影响最严重。该项目有两个部分。第一部分旨在确定导致儿童期发病的远端肌病的原因，我们首先在西澳大利亚的一个家庭中发现了这种病。我们将该家族中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，并通过研究该家族和来自欧洲的类似家族，我们可能已经鉴定了该基因。该项目旨在证明候选疾病基因就是该疾病基因。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基因。

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.