雷亚尔1
恶性高热
中心核心病
生物
错义突变
肌病
遗传学
先天性肌病
兰尼定受体
骨骼肌
外显子
表型
基因
病理
内分泌学
肌肉活检
受体
活检
医学
作者
Rachel Robinson,Danielle Carpenter,Marie‐Anne Shaw,Jane Halsall,Philip M. Hopkins
出处
期刊:Human Mutation
[Wiley]
日期:2006-10-01
卷期号:27 (10): 977-989
被引量:439
摘要
The RYR1 gene encodes the skeletal muscle isoform ryanodine receptor and is fundamental to the process of excitation-contraction coupling and skeletal muscle calcium homeostasis. Mapping to chromosome 19q13.2, the gene comprises 106 exons and encodes a protein of 5,038 amino acids. Mutations in the gene have been found in association with several diseases: the pharmacogenetic disorder, malignant hyperthermia (MH); and three congenital myopathies, including central core disease (CCD), multiminicore disease (MmD), and in an isolated case of a congenital myopathy characterized on histology by cores and rods. The majority of gene mutations reported are missense changes identified in cases of MH and CCD. In vitro analysis has confirmed that alteration of normal calcium homeostasis is a functional consequence of some of these changes. Genotype-phenotype correlation studies performed using data from MH and CCD patients have also suggested that mutations may be associated with a range of disease severity phenotypes. This review aims to summarize the current understanding of RYR1 mutations reported in association with MH and CCD and the present viewpoint on the use of mutation data to aid clinical diagnosis of these conditions.
科研通智能强力驱动
Strongly Powered by AbleSci AI