期刊
EUROPEAN JOURNAL OF MEDICAL GENETICS
卷 52, 期 1, 页码 14-16出版社
ELSEVIER SCIENCE BV
DOI: 10.1016/j.ejmg.2008.10.006
关键词
Berardinelli-Seip congenital lipodystrophy; Insulin resistance; Hypertrophic cardiomyopathy; Leptin
Berardinelli-Seip congenital lipodystrophy (BSCL) is a rare autosomal recessive condition associating insulin resistance, absence of subcutaneous fat and muscular hypertrophy. Disease-causing mutations have been described in AGPAT2 and BSCL2 genes. Hypertrophic cardiomyopathy is a classical late (third decade) complication which has only been occasionally described in childhood. We report on a 4-month-old Chinese male infant who presented with a severe BSCL cardiac phenotype comprising heart failure, hypertension and hypertrophic cardiomyopathy. (C) 2008 Elsevier Masson SAS. All rights reserved.
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