title: Occidental type cerebromuscular dystrophy: a report of eleven cases.
abstract: Occidental type cerebromuscular dystrophy (OCMD) forms a substantial distinct group within congenital muscular dystrophy (CMD). These patients invariably present with amyotrophy, multiple joint contractures, facial muscle involvement, normal or nearly normal intelligence, leukodystrophic appearance on CT scan, and dystrophic changes in muscle.
authors.affiliation: Hacettepe University, Children's Hospital, Ankara, Turkey.
authors.forename: H
authors.initials: H
authors.lastname: Topaloğlu
authors.forename: K
authors.initials: K
authors.lastname: Yalaz
authors.forename: Y
authors.initials: Y
authors.lastname: Renda
authors.forename: M
authors.initials: M
authors.lastname: Cağlar
authors.forename: S
authors.initials: S
authors.lastname: Göğüs
authors.forename: G
authors.initials: G
authors.lastname: Kale
authors.forename: K
authors.initials: K
authors.lastname: Gücüyener
authors.forename: G
authors.initials: G
authors.lastname: Nurlu
mesh_terms: D001706:Biopsy; D001921:Brain / Q000473:pathology; D002869:Chromosome Aberrations / Q000175:diagnosis / Q000208:ethnology / Q000235:genetics* / Q000473:pathology; D025063:Chromosome Disorders; D002549:Diffuse Cerebral Sclerosis of Schilder / Q000175:diagnosis / Q000208:ethnology / Q000235:genetics* / Q000473:pathology; D005260:Female; D005808:Genes, Recessive / Q000235:genetics*; D006801:Humans; D007223:Infant; D008297:Male; D009132:Muscles / Q000473:pathology; D009136:Muscular Dystrophies / Q000175:diagnosis / Q000208:ethnology / Q000235:genetics* / Q000473:pathology; D014057:Tomography, X-Ray Computed; D014421:Turkey