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Results 1 - 1 of 1 for Generalized muscular appearance from birth
  1. CAV1 gene 
    ... CAV1 gene has been found to cause congenital generalized lipodystrophy (also called Berardinelli-Seip congenital lipodystrophy) type 3. This rare condition is characterized by an almost total absence of adipose tissue and a very muscular appearance. A shortage of adipose tissue leads to multiple ...
    https://medlineplus.gov/genetics/gene/cav1 - Genetics