Broad a bands of striated muscle in leber's congenital amaurosis: A new congenital myopathy?

Robert E. Mrak, Bernadette Lange, Michael C. Brodsky

Research output: Contribution to journalArticle

6 Scopus citations

Abstract

A 2-year-old boy with Leber's congenital amaurosis, hypotonia, depressed myotatic reflexes, and delayed motor development had numerous foci of broadened or smeared A bands, loss of distinct I bands, and near-normal Z lines in biopsied muscle. The thick filaments in these lesions appeared misaligned, suggesting an abnormality of the M line or of the structural protein connectin. This unique alteration represents the first described morphologic abnormality of muscle in a patient with Leber's congenital amaurosis.

Original languageEnglish (US)
Pages (from-to)838-841
Number of pages4
JournalNeurology
Volume43
Issue number4
StatePublished - Apr 1993

ASJC Scopus subject areas

  • Clinical Neurology

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