[Genes and their functional mechanisms in the pathogenesis of muscular dystrophy].
Muscular dystrophy (MD), a group of inherited disorders characterized by progressive skeletal muscle wasting and weakness, can be classified into several groups according to Mendelian inheritance patterns and clinical features. Many genes related to MD have been identified and cloned by genetic linkage analysis and positional cloning strategy. Our understanding of the molecular mechanisms giving rise to muscular dystrophy have made a progress by the functional analysis of proteins encoded by candidate genes for MD. This article reviews genes and their functional mechanisms in the pathogenesis of muscular dystrophy.
Zhang
Yong
Y
National Laboratory of Medical Molecular Biology, Institute of Basic Medical Sciences, CAMS and PUMC, Beijing 100005, China.
Zhu
Da-hai
DH
D002154:Calpain / Q000235:genetics*; D016189:Dystrophin / Q000235:genetics*; D006801:Humans; D034904:Lamin Type A / Q000235:genetics; D009124:Muscle Proteins / Q000235:genetics; D009136:Muscular Dystrophies / Q000209:etiology / Q000235:genetics*; D055435:Myostatin; D016212:Transforming Growth Factor beta / Q000235:genetics*; D000070584:Tripartite Motif Proteins; D044767:Ubiquitin-Protein Ligases / Q000235:genetics
D016189:Dystrophin; D034904:Lamin Type A; C525911:MSTN protein, human; D009124:Muscle Proteins; D055435:Myostatin; D016212:Transforming Growth Factor beta; D000070584:Tripartite Motif Proteins; C440908:TRIM63 protein, human; D044767:Ubiquitin-Protein Ligases; D002154:Calpain