title: Mutations in the nebulin gene in a child with nemaline (rod) myopathy.
abstract: Nemaline myopathy, also called rod myopathy, is a relatively common congenital myopathy and probably second in incidence only to central core disease. The mainstay of diagnosis is histopathology, but detection of the causative mutation is mandatory for determining the mode of inheritance and for prenatal diagnosis. The authors report two siblings with nemaline myopathy caused by mutations in the nebulin gene.
authors.affiliation: Division of Genetics, Department of Pediatrics, Maulana Azad Medical College, New Delhi 110002, India. drseemakapoor@gmail.com
authors.forename: Seema
authors.initials: S
authors.lastname: Kapoor
authors.forename: Ankur
authors.initials: A
authors.lastname: Singh
authors.forename: Vilma-Lotta
authors.initials: VL
authors.lastname: Lehtokari
authors.forename: Carina
authors.initials: C
authors.lastname: Wallgren-Pettersson
authors.forename: Vineeta Vijay
authors.initials: VV
authors.lastname: Batra
mesh_terms: D004252:DNA Mutational Analysis; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D008297:Male; D009124:Muscle Proteins / Q000235:genetics*; D017696:Myopathies, Nemaline / Q000235:genetics*
chemical_list: D009124:Muscle Proteins; C035620:nebulin