title: A case of nemaline myopathy with ophthalmoplegia and mitochondrial abnormalities.
abstract: A case of nemaline myopathy with ophthalmoplegia is reported. The patient was a 35-year-old man born of consanguineous parents. He had a myopathic face, high-arched palate, nasal voice, scoliosis, very thin trunk and marked muscle weakness involving face, neck, limbs and trunk. He also had ptotis of the left eyelid and mild bilateral ophthalmoplegia, also detected by electrooculogram. Biopsy of gastrocnemius muscle revealed nemaline rods. At the ultrastructural level, the rods appeared to have axial and cross striations, and in cross-sections at high magnification they seemed to have a crystal lattice structure. Intranuclear rods were also observed. In addition to the rods, abnormal mitochondria including a number of paracrystalline inclusions were seen.
mesh_terms: D000328:Adult; D001706:Biopsy; D001763:Blepharoptosis / Q000151:congenital; D002467:Cell Nucleus / Q000648:ultrastructure; D004585:Electrooculography; D006801:Humans; D002479:Inclusion Bodies / Q000648:ultrastructure; D008297:Male; D008931:Mitochondria, Muscle / Q000648:ultrastructure*; D009132:Muscles / Q000473:pathology; D009135:Muscular Diseases / Q000151:congenital* / Q000473:pathology; D009243:NAD / Q000378:metabolism; D009886:Ophthalmoplegia / Q000151:congenital*
chemical_list: D009243:NAD