Titinopathies: what happens when a big gene mutates in a big family?
Selcen
Duygu
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Bushby
Kate
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D000818:Animals; D001483:Base Sequence; D001530:Belgium / Q000453:epidemiology; D002154:Calpain / Q000172:deficiency / Q000235:genetics; D064211:Connectin; D005091:Exons / Q000235:genetics; D005387:Finland / Q000453:epidemiology; D005602:France / Q000453:epidemiology; D005799:Genes, Dominant; D006801:Humans; D007527:Isoenzymes / Q000172:deficiency / Q000235:genetics; D051379:Mice; D009124:Muscle Proteins / Q000172:deficiency / Q000235:genetics* / Q000502:physiology; D049288:Muscular Dystrophies, Limb-Girdle / Q000453:epidemiology / Q000235:genetics*; D010641:Phenotype; D011494:Protein Kinases / Q000172:deficiency / Q000235:genetics* / Q000502:physiology
D064211:Connectin; D007527:Isoenzymes; D009124:Muscle Proteins; C577285:TTN protein, human; D011494:Protein Kinases; C105884:CAPN3 protein, human; D002154:Calpain