Cerebro-ocular dysplasia -Muscular dystrophy (COD-MD) syndrome

J. Towfighi, J. W. Sassani, K. Suzuki, R. L. Ladda

Research output: Contribution to journalArticle

50 Citations (Scopus)

Abstract

The Fukuyama form of congenital muscular dystrophy (FCMD), first described in Japan, is associated with distinct dysplastic cerebral malformations including agyria and micropolygyria of cerebral cortex, micropolygyria of cerebellum, and leptomeningeal gliomesodermal proliferations. We describe seven cases in four families from the United States with a syndrome similar to FCMD but with additional ophthalmic malformations. We believe that these cases represent a form of congenital muscular dystrophy different from FCMD and termed it cerebroocular dysplasia-muscular dystrophy (COD-MD) syndrome.

Original languageEnglish (US)
Pages (from-to)110-123
Number of pages14
JournalActa Neuropathologica
Volume65
Issue number2
DOIs
StatePublished - Jun 1 1984

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Chronic Progressive External Ophthalmoplegia
Muscular Dystrophies
Walker-Warburg Syndrome
Lissencephaly
Cerebral Cortex
Cerebellum
Japan
Polymicrogyria

All Science Journal Classification (ASJC) codes

  • Pathology and Forensic Medicine
  • Clinical Neurology
  • Cellular and Molecular Neuroscience

Cite this

Towfighi, J. ; Sassani, J. W. ; Suzuki, K. ; Ladda, R. L. / Cerebro-ocular dysplasia -Muscular dystrophy (COD-MD) syndrome. In: Acta Neuropathologica. 1984 ; Vol. 65, No. 2. pp. 110-123.
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Cerebro-ocular dysplasia -Muscular dystrophy (COD-MD) syndrome. / Towfighi, J.; Sassani, J. W.; Suzuki, K.; Ladda, R. L.

In: Acta Neuropathologica, Vol. 65, No. 2, 01.06.1984, p. 110-123.

Research output: Contribution to journalArticle

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