EVALUATION OF FUKUTIN RELATED PROTEIN MUSCULAR DYSTROPHY

这个子项目是许多研究子项目中利用 资源由NIH/NCRR资助的中心拨款提供。子项目和 调查员(PI)可能从NIH的另一个来源获得了主要资金， 并因此可以在其他清晰的条目中表示。列出的机构是 该中心不一定是调查人员的机构。 可能的糖基转移酶Fukutin相关蛋白(FKRP)突变导致肌营养不良症，具有非常广泛的临床表型。我们的长期目标是开发治疗FKRP肌营养不良症的治疗策略。为了实现这一目标，我们必须首先研究FKRP相关肌营养不良症(FKRP-MD)临床病程中变异的遗传和非遗传决定因素，以更好地了解个体变异的基础，制定临床建议，并产生新疗法的想法。在开发治疗试验之前，确定这类疾病的临床变异性也是必要的基线。我们还将建立FKRP肌营养不良症的小鼠模型，以研究疾病进展背后的致病事件，提供一个模型来研究非遗传变量对疾病异质性的影响，并使评估潜在的治疗策略成为可能。

This subproject is one of many research subprojects utilizing the resources provided by a Center grant funded by NIH/NCRR. The subproject and investigator (PI) may have received primary funding from another NIH source, and thus could be represented in other CRISP entries. The institution listed is for the Center, which is not necessarily the institution for the investigator. Mutations in the putative glycosyltransferase fukutin related protein (FKRP) result in muscular dystrophy with a very wide range of clinical phenotypes. Our long-term goal is to develop therapeutic strategies for the treatment of FKRP muscular dystrophies. To achieve this goal, we must first study the genetic and non-genetic determinants of variability in the clinical course of FKRP-related muscular dystrophies (FKRP-MDs) to better understand the basis for individual variability, formulate clinical recommendations, and generate ideas for new therapies. Defining the clinical variability in this group of diseases is also a necessary baseline before therapeutic trials can be developed. We will also generate a mouse model for FKRP muscular dystrophy to study the pathogenic events underlying disease progression, provide a model to study the impact of non-genetic variables on disease heterogeneity, and enable the assessment of potential therapeutic strategies.