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Overlapping syndrome with familial partial lipodystrophy, Dunnigan variety and cardiomyopathy due to amino‐terminal heterozygous missense lamin A/C mutations

22 Dec 2009

Abstract excerpt

Familial partial lipodystrophy, Dunnigan variety (FPLD) is a well-recognized autosomal dominant disorder due to heterozygous missense mutations in lamin A/C (LMNA) gene. Most of the FPLD patients harbor mutations in the C-terminal of the lamin A/C and do not develop cardiomyopathy. On the other hand, affected subjects from three FPLD pedigrees with heterozygous R28W, R60G and R62G LMNA mutations in the...

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PMID: 20041886
DOI: 10.1111/j.1399-0004.2009.01350.x

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