title: Congenital myopathies in Israeli families.
abstract: The clinical features of 37 patients from 32 Israeli families with congenital myopathies evaluated between 1983 and 2004 are described: 13 children were diagnosed with congenital fiber type disproportion, 10 had myotubular myopathy, 7 had nemaline myopathy, 5 had central core disease, 1 had actin myopathy, and 1 had multi-minicore disease. There were 7 families (22%) that had parental consanguinity, and 4 families (12%) had more than 1 patient with congenital myopathy. Of the patients, 31 (84%) presented with clinical symptoms before 4 months of age, and 6 children (16%) presented after 1 year of age. Thirteen children (35%) had a severe phenotype with chronic ventilatory dependence or mortality before the age of 11 years. Facial weakness was associated with a severe phenotype. There was a high rate of a severe clinical phenotype in patients with myotubular myopathy (60%) and in patients with nemaline myopathy (57%), whereas in patients with congenital fiber type disproportion and in patients with central core disease, the proportion of a severe phenotype was lower (23% and 0%, respectively).
authors.affiliation: Sourasky Medical Center, Tel-Aviv, Isreal.
authors.forename: Karin
authors.initials: K
authors.lastname: Weiss
authors.forename: Yehuda
authors.initials: Y
authors.lastname: Shapira
authors.forename: Benjamin
authors.initials: B
authors.lastname: Glick
authors.forename: Tally
authors.initials: T
authors.lastname: Lerman-Sagie
authors.forename: Eli
authors.initials: E
authors.lastname: Shahar
authors.forename: Helly
authors.initials: H
authors.lastname: Goez
authors.forename: Miriam
authors.initials: M
authors.lastname: Kutai
authors.forename: Yoram
authors.initials: Y
authors.lastname: Nevo
mesh_terms: D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D005192:Family Health; D005260:Female; D006801:Humans; D007223:Infant; D007557:Israel; D008297:Male; D009223:Myotonic Dystrophy / Q000145:classification / Q000175:diagnosis / Q000503:physiopathology; D012189:Retrospective Studies