Title |
Rhizomelic chondrodysplasia punctata and cardiac pathology
|
---|---|
Published in |
Journal of Medical Genetics, April 2013
|
DOI | 10.1136/jmedgenet-2013-101536 |
Pubmed ID | |
Authors |
Irene C Huffnagel, Sally-Ann B Clur, Annemieke M Bams-Mengerink, Nico A Blom, Ronald J A Wanders, Hans R Waterham, Bwee Tien Poll-The |
Abstract |
Rhizomelic chondrodysplasia punctata (RCDP) is an autosomal recessive peroxisomal disorder characterised by rhizomelia, contractures, congenital cataracts, facial dysmorphia, severe psychomotor defects and growth retardation. Biochemically, the levels of plasmalogens (major constituents of cellular membranes) are low due to a genetic defect in their biosynthesis. Cardiac muscle contains high concentrations of plasmalogens. Recently cardiac dysfunction was found in a mouse model for RCDP with undetectable plasmalogen levels in all tissues including the heart. This suggests the importance of plasmalogens in normal cardiac development and function. Congenital heart disease (CHD), however, has not been recognised as a major characteristic of RCDP. |
Mendeley readers
Geographical breakdown
Country | Count | As % |
---|---|---|
Unknown | 30 | 100% |
Demographic breakdown
Readers by professional status | Count | As % |
---|---|---|
Student > Bachelor | 5 | 17% |
Student > Ph. D. Student | 4 | 13% |
Researcher | 3 | 10% |
Professor | 3 | 10% |
Student > Postgraduate | 3 | 10% |
Other | 10 | 33% |
Unknown | 2 | 7% |
Readers by discipline | Count | As % |
---|---|---|
Medicine and Dentistry | 10 | 33% |
Biochemistry, Genetics and Molecular Biology | 8 | 27% |
Agricultural and Biological Sciences | 4 | 13% |
Psychology | 1 | 3% |
Sports and Recreations | 1 | 3% |
Other | 1 | 3% |
Unknown | 5 | 17% |