Infantile cardiomyopathy
National Institutes of Health
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Objectives: The study was focused on leukoencephalopathies of unknown cause in order to define a novel, homogeneous phenotype…
A 10-wk-old infant girl with severe hypertrophy of the septal and atrial walls by cardiac ultrasound, developed progressive…
BACKGROUND
Alström syndrome is a recessively inherited genetic disorder characterized by congenital retinal dystrophy that leads…
Background — Mutations in the gene G4.5 result in a wide spectrum of severe infantile cardiomyopathic phenotypes, including…
beta-Oxidation of long-chain fatty acids provides the major source of energy in the heart. Defects in enzymes of the beta…
We report a new mutation, a C to T transition at nt 3303 of mtDNA, in seven members of a family with cardiomyopathy and myopathy…
Clinical and pathologic findings are presented in 14 patients (six newly reported, eight described previously), all children…