Mulibrey nanism

Mulibrey nanism: clinical features and diagnostic criteria.

Mulibrey nanism (MUL) is an autosomal recessive disease caused by mutations in the TRIM37 gene encoding the peroxisomal TRIM37 protein of unknown function. In this work, we analysed the clinical characteristics of 85 Finnish patients with MUL, most of whom were homozygous for the Finn major mutation of TRIM37. The patients' hospital records from birth to the time of the diagnosis at age 0.02-52...

Positional Cloning of the Mulibrey Nanism Gene (mul)

Report of two Syrian siblings with Mulibrey nanism

Mulibrey (MUscle-LIver-BRain-EYe) nanism is a rare autosomal recessive disease characterized by growth failure, dysmorphic features and a wide range of abnormalities affecting multiple organ systems. This report is the first to present two cases of Mulibrey nanism affecting two siblings from Syria. Mulibrey nanism can be suspected clinically due to the distinctive features of the patients. The ...

MULIBREY NANISM Characterization of Hypogonadism, Infertility and Tumors

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Cardiac involvement in Mulibrey nanism: characterization with magnetic resonance imaging.

Mulibrey nanism (MUL) is an autosomal recessive disorder that is enriched in the Finnish population. Variable degrees of pericardial and myocardial involvement can lead to heart failure and premature death. The purpose of this study was using magnetic resonance imaging (MRI) to assess structural and functional abnormalities of the MUL cardiopathy in all four cardiac chambers as well as in the p...