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Results 1 - 10 of 13 for "Cardiomyopathy," familial hypertrophic 27
  1. ... j.repc.2021.05.015. Epub 2022 May 27. English, Portuguese. Citation on PubMed
  2. ... muscle. Mutations in the TNNT2 gene can cause familial hypertrophic cardiomyopathy, a condition characterized by thickening (hypertrophy) of the ... and sudden death.Most TNNT2 gene mutations in familial hypertrophic cardiomyopathy change single protein building blocks (amino acids) in ...
  3. ... This Health Condition MedlinePlus Genetics provides information about Familial hypertrophic cardiomyopathy More About This Health Condition Several mutations in ...
  4. ... CE, Seidman JG. Glycogen storage diseases presenting as hypertrophic cardiomyopathy. N Engl J Med. 2005 Jan 27;352(4):362-72. doi: 10.1056/NEJMoa033349. ...
  5. ... this condition have short stature compared to their family and peers and may have ... Neurological problems in people with Costello syndrome include ...
  6. ... affected individuals, even among those in the same family. People who are mildly ... cardiomyopathy). Another possible feature of this condition is an ...
  7. ... who have heart defects, about 80 percent have hypertrophic cardiomyopathy, which is a thickening of the heart muscle ... heart to work harder to pump blood. The hypertrophic cardiomyopathy most often affects the lower left chamber of ...
  8. ... also have an enlarged and weakened heart muscle (hypertrophic cardiomyopathy), which is typically fatal in infancy or childhood. ... symptoms of ACAD9 deficiency, such as encephalomyopathy and hypertrophic cardiomyopathy. Although the exact mechanism is unclear, it is ...
  9. ... common feature of mitochondrial complex V deficiency is hypertrophic cardiomyopathy. This condition is characterized by thickening (hypertrophy) of the heart (cardiac) muscle that can lead ...
  10. ... people with these variants also have features of hypertrophic cardiomyopathy, a form of heart disease that enlarges and ... learnt and lessons remaining. Cardiol Young. 2017 Jan;27(S1):S62-S67. doi: ... a gene responsible for familial Wolff-Parkinson-White syndrome. N Engl J Med. ...
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