Occidental type cerebromuscular dystrophy: a report of eleven cases.
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.
Topaloğlu
H
H
Hacettepe University, Children's Hospital, Ankara, Turkey.
Yalaz
K
K
Renda
Y
Y
Cağlar
M
M
Göğüs
S
S
Kale
G
G
Gücüyener
K
K
Nurlu
G
G
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