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 language | English (US) |
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Pages (from-to) | 838-841 |
Number of pages | 4 |
Journal | Neurology |
Volume | 43 |
Issue number | 4 |
State | Published - Apr 1993 |
ASJC Scopus subject areas
- Clinical Neurology