Ontology highlight
ABSTRACT:
SUBMITTER: Johnston JJ
PROVIDER: S-EPMC1287886 | biostudies-literature | 2000 Oct
REPOSITORIES: biostudies-literature
Johnston J J JJ Kelley R I RI Crawford T O TO Morton D H DH Agarwala R R Koch T T Schäffer A A AA Francomano C A CA Biesecker L G LG
American journal of human genetics 20000821 4
The nemaline myopathies are characterized by weakness and eosinophilic, rodlike (nemaline) inclusions in muscle fibers. Amish nemaline myopathy is a form of nemaline myopathy common among the Old Order Amish. In the first months of life, affected infants have tremors with hypotonia and mild contractures of the shoulders and hips. Progressive worsening of the proximal contractures, weakness, and a pectus carinatum deformity develop before the children die of respiratory insufficiency, usually in ...[more]