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Example sentences for: edmd

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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