Genotype Phenotype Correlations in Movement and Neuromuscular Disorders

我们是第一个发现导致肌原纤维性肌病的聚丝蛋白基因多重突变的小组。此外，我们还描述了一种与SOD1基因突变相关的遗传性肌萎缩侧索硬化症的新变体。此外，我们还描述了一种由PRNP基因突变引起的独特形式的朊病毒脑病。我们还通过检测RYR1基因的新突变以及与7q11.23-21.1区域的强关联，在一个美国大家族中发现了恶性高热易感性的基因遗传证据。我们是clia认证的脊髓小脑共济失调，desmin肌病和朊病毒疾病的基因检测；99财年期间对209名患者进行了检测。- Desmin肌病；痉挛性截瘫;spino-cerebellar共济失调;朊病毒疾病。

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.