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Example sentences for: dreifuss
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As specialized proteins of the intermediate filament protein family, lamin A/C is found at the inner nuclear membrane where it forms a scaffold that interacts with a network of membrane bound and nucleoplasmic proteins in addition to chromatin [ 3 4 5 ] . Mutations in the gene encoding the nuclear membrane protein emerin produce autosomal recessive Emery Dreifuss Muscular Dystrophy, a disorder that phenotypically overlaps the neuromuscular and cardiovascular features seen with lamin A/C mutations [ 6 ] . Consistent with this, lamin A/C directly binds emerin [ 7 8 ] . Lamins A and C are broadly expressed in many different cell types and are primarily expressed in terminally differentiated cells.
In addition to DCM with conduction system disease and variable skeletal muscle involvement, mutations in the Lamin A/C gene [OMIM 150330] have been shown to cause autosomal dominant [ 11 ] and autosomal recessive [ 12 ] Emery-Dreifuss Muscular Dystrophy (EDMD), autosomal dominant limb-girdle muscular dystrophy type 1B (LGMD) [ 13 ] , autosomal recessive type 2 Charcot-Marie Tooth type 2 [ 14 ] , familial partial lipodystrophy [ 15 16 ] , Mandibuloacral dysplasia [ 17 ] and Hutchinson-Gilford progeria [ 18 ] . The phenotypic spectrum from DCM to EDMD and limb girdle muscular dystrophy appears continuous.
EDMD, Emery Dreifuss Muscular Dystrophy
The Drosophila mutations Mushroom body defect (a gene involved in the proliferation of neuronal precursor cells) and quick-to-court (a mutation that causes elevated sexual behavior) lie in two tissue-specifically expressed coiled-coil proteins of unknown function [ 20 21 ] . In humans and mouse models, specific point mutations in nuclear lamins are the cause for autosomal Emery-Dreifuss muscular dystrophy [ 22 23 ] .
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