Sandbox GGC5: Difference between revisions
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'''Cardiomyopathy, dilated 1G:''' | '''Cardiomyopathy, dilated 1G:''' | ||
This disorder is characterized by ventricular dilation and impaired systolic function. This disorder results in congestive heart failure and arrhythmia, ultimately leading to a high possibility of premature death. This disease is often indicated by natural variants in the following locations: 54, 743, 976, 3799, 4465 or 32996. All of these variants affect the interaction with the TCAP/telethonin. | This disorder is characterized by ventricular dilation and impaired systolic function. This disorder results in congestive heart failure and arrhythmia, ultimately leading to a high possibility of premature death. This disease is often indicated by natural variants in the following locations: 54, 743, 976, 3799, 4465 or 32996. All of these variants affect the interaction with the TCAP/telethonin. <ref>PMID:11846417</ref> | ||
'''Tardive tibial muscular dystrophy:''' | '''Tardive tibial muscular dystrophy:''' | ||
