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Results 21 - 30 of 66 for Restrictive cardiomyopathy
  1. ALG12-congenital disorder of glycosylation 
    ... with ALG12-CDG include a weakened heart muscle (cardiomyopathy) and poor bone development, which can lead to ... Ig): sibs with a unique skeletal dysplasia, hypogammaglobulinemia, cardiomyopathy, genital malformations, and early lethality. Am J Med ...
    https://medlineplus.gov/...lg12-congenital-disorder-of-glycosylation - Genetics
  2. Centronuclear myopathy 
    ... with centronuclear myopathy have a weakened heart muscle (cardiomyopathy), disturbances in nerve function (neuropathy), or intellectual disability. ... and its deficiency causes centronuclear myopathy with dilated cardiomyopathy. Am J Hum Genet. 2014 Aug 7;95( ...
    https://medlineplus.gov/genetics/condition/centronuclear-myopathy - Genetics
  3. Alström syndrome 
    ... that enlarges and weakens the heart muscle (dilated cardiomyopathy), obesity, type 2 diabetes (the most common form ... JD, Kaplan P. Familial variable expression of dilated cardiomyopathy in Alstrom syndrome: a report of four sibs. ...
    https://medlineplus.gov/genetics/condition/alstrom-syndrome - Genetics
  4. Primary carnitine deficiency 
    ... brain dysfunction (encephalopathy), a weakened and enlarged heart (cardiomyopathy), vomiting, muscle weakness, and low blood glucose (hypoglycemia). ... no genotype-phenotype correlations: early carnitine therapy prevents cardiomyopathy. Am J Med Genet. 2002 Aug 15;111( ...
    https://medlineplus.gov/.../condition/primary-carnitine-deficiency - Genetics
  5. Carnitine palmitoyltransferase II deficiency 
    ... respiratory failure, liver failure, a weakened heart muscle (cardiomyopathy), and an irregular heartbeat (arrhythmia). In many cases, ... recurring episodes of hypoketotic hypoglycemia, seizures, liver dysfunction, cardiomyopathy, arrhythmia, and muscle weakness (myopathy) in the arms ...
    https://medlineplus.gov/...nitine-palmitoyltransferase-ii-deficiency - Genetics
  6. SUCLG1-related mitochondrial DNA depletion syndrome 
    ... abnormalities and thickening of the heart muscle (hypertrophic cardiomyopathy). In affected individuals, a substance called methylmalonic acid ...
    https://medlineplus.gov/...ated-mitochondrial-dna-depletion-syndrome - Genetics
  7. Rippling muscle disease 
    ... isolated hyperCKemia, and a heart disorder called hypertrophic cardiomyopathy. Several CAV3 gene mutations have been found to ...
    https://medlineplus.gov/genetics/condition/rippling-muscle-disease - Genetics
  8. Mucolipidosis III alpha/beta 
    ... of mucolipidosis III associated with sensory neuropathy and cardiomyopathy. Am J Med Genet A. 2005 Feb 1; ...
    https://medlineplus.gov/.../condition/mucolipidosis-iii-alpha-beta - Genetics
  9. HSD10 disease 
    ... gradually gets worse. Weakening of the heart muscle (cardiomyopathy) also occurs and is a common cause of ...
    https://medlineplus.gov/genetics/condition/hsd10-disease - Genetics
  10. Mitochondrial complex V deficiency 
    ... feature of mitochondrial complex V deficiency is hypertrophic cardiomyopathy. This condition is characterized by thickening (hypertrophy) of ...
    https://medlineplus.gov/.../mitochondrial-complex-v-deficiency - Genetics
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