Ontology highlight
ABSTRACT:
SUBMITTER: MacLeod HM
PROVIDER: S-EPMC169171 | biostudies-literature | 2003 Jul
REPOSITORIES: biostudies-literature
MacLeod Heather M HM Culley Mary R MR Huber Jill M JM McNally Elizabeth M EM
BMC medical genetics 20030710
<h4>Background</h4>Mutations in the gene encoding the nuclear membrane protein lamin A/C have been associated with at least 7 distinct diseases including autosomal dominant dilated cardiomyopathy with conduction system disease, autosomal dominant and recessive Emery Dreifuss Muscular Dystrophy, limb girdle muscular dystrophy type 1B, autosomal recessive type 2 Charcot Marie Tooth, mandibuloacral dysplasia, familial partial lipodystrophy and Hutchinson-Gilford progeria.<h4>Methods</h4>We used mut ...[more]