Genotype Phenotype Correlations in Movement and Neuromuscular Disorders

我们是第一个鉴定出导致肌原纤维肌病的结蛋白基因多重突变的小组。此外，我们还描述了一种与SOD 1基因突变相关的遗传性肌萎缩侧索硬化症的新变体。此外，我们还发现了一种由PRNP基因突变引起的朊病毒脑病。我们还通过检测RYR 1基因中的一种新突变和与7q11.23-21.1区域的强连锁，提出了一个美国大家庭中恶性高热易感性的双基因遗传证据。我们获得CLIA认证，可对脊髓小脑共济失调、结蛋白肌病和朊病毒疾病进行基因检测;在1999财年，对209名患者进行了检测。- 结蛋白肌病;痉挛性截瘫;脊髓小脑共济失调;朊病毒病。

We were the first group to identify multiple mutations in the desmin gene that caused myofibrillar myopathy. In addition, we have described a new variant of hereditary amyotrophic lateral sclerosis associated with a mutation in the SOD1 gene. Additionally, we have characterised a distinct form of prion encephalopathy caused by a novel mutation in the PRNP gene. We also presented evidence for digenic inheritance of malignant hyperthermia susceptibility in a large American family by detecting a novel mutation in the RYR1 gene and a strong linkage to the 7q11.23-21.1 region. We are CLIA-certified to perform genetic testing for spinocerebellar ataxias, desmin myopathy and prion diseases; 209 patients were tested during FY99. - Desmin myopathy; spastic paraplegia; spino-cerebellar ataxia; prion diseases.