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GENETIC BASIS FOR METABOLIC MYOPATHIES

GENETIC BASIS FOR METABOLIC MYOPATHIES
代谢性肌病的遗传基础
批准号：
3770200
负责人：
P H PLOTZ
金额：
$0.0万
依托单位：
NATIONAL INSTITUTE OF ARTHRITIS AND MUSCULOSKELETAL AND SKIN DISEASES
依托单位国家：
美国
项目类别：
财政年份：
--
资助国家：
美国
项目状态：
未结题
起止时间：
至
来源：
https://reporter.nih.gov/project-details/3770200
关键词：
6 phosphofructokinase alpha glucosidase enzyme deficiency family genetics gene therapy glycogen storage disease type II human subject inborn metabolism disorder diagnosis linkage mapping muscle disorder diagnosis

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中文摘要
翻译
分析突变及其与临床疾病的相关性， 通过对一些家庭的分析， 磷酸果糖激酶（PFK）和酸性麦芽糖酶缺乏。 基因计划 酸性麦芽糖酶缺乏症的治疗已经在几个领域取得了进展。 已经诊断出许多代谢性/遗传性肌病。
英文摘要
Analysis of mutations and correlation with clinical illness has been greatly expanded by the analysis of a number of families with both phosphofructokinase (PFK) and acid maltase deficiencies. Plans for gene therapy of acid maltase deficiency have moved forward in several areas. A number of metabolic/genetic myopathies have been diagnosed.
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会议论文
GENETIC METABOLIC MYOPATHIES--PHOSPHOFRUCTOKINASE/ACID MALTASE DEFICIENCY
IMMUNOPATHOGEN AUTOIMMUNE INFLAMMATORY MYOPATHIES--POLYMYOSITIS/DERMATOMYOSITIS
THERAPEUTIC TRIALS IN IDIOPATHIC INFLAMMATORY MYOPATHIES
VIRUSES IN THE INDUCTION OF AUTOANTIBODIES IN HUMANS AND MICE
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