Ontology highlight
ABSTRACT:
SUBMITTER: Laing NG
PROVIDER: S-EPMC1684287 | biostudies-literature | 1992 Mar
REPOSITORIES: biostudies-literature
Laing N G NG Majda B T BT Akkari P A PA Layton M G MG Mulley J C JC Phillips H H Haan E A EA White S J SJ Beggs A H AH Kunkel L M LM
American journal of human genetics 19920301 3
Nemaline myopathy (NEM) is a neuromuscular disorder characterized by the presence, in skeletal muscle, of nemaline rods composed at least in part of alpha-actinin. A candidate gene and linkage approach was used to localize the gene (NEM1) for an autosomal dominant form (MIM 161800) in one large kindred with 10 living affected family members. Markers on chromosome 19 that were linked to the central core disease gene, a marker at the complement 3 locus, and a marker on chromosome 1 at the alpha-ac ...[more]