title: Complete external ophthalmoplegia in a patient with congenital myopathy without specific features (minimal change myopathy).
abstract: An 11-month-old female infant with mild asphyxia at birth had severe generalized muscle hypotonia and weakness, predominantly in the neck flexors, a high-arched palate and a funnel chest from early infancy. Her facial muscles were also markedly involved. In addition, she showed striking non-progressive, complete external ophthalmoplegia and mild ptosis. A muscle biopsy specimen showed non-specific myopathic changes, including mild variation in fiber size, mild type 1 fiber predominance, type 2B fiber deficiency and slightly increased acid phosphatase activity. Complete ophthalmoplegia may thus be seen not only in myotubular myopathy but also in various forms of congenital non-progressive myopathy.
authors.affiliation: Department of Pediatrics and Child Health, Kurume University School of Medicine, Japan.
authors.forename: E
authors.initials: E
authors.lastname: Ohtaki
authors.forename: Y
authors.initials: Y
authors.lastname: Yamaguchi
authors.forename: Y
authors.initials: Y
authors.lastname: Yamashita
authors.forename: T
authors.initials: T
authors.lastname: Matsuishi
authors.forename: K
authors.initials: K
authors.lastname: Terasawa
authors.forename: Y
authors.initials: Y
authors.lastname: Katafuchi
authors.forename: I
authors.initials: I
authors.lastname: Nonaka
mesh_terms: D000015:Abnormalities, Multiple; D005260:Female; D006801:Humans; D007223:Infant; D009123:Muscle Hypotonia / Q000151:congenital; D009132:Muscles / Q000473:pathology; D009135:Muscular Diseases / Q000150:complications* / Q000151:congenital / Q000473:pathology; D009886:Ophthalmoplegia / Q000209:etiology*