Broad A bands of striated muscle in Leber's congenital amaurosis: a new congenital myopathy?
case_report · Level V
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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.
Medical subject headings
- Muscles
- Optic Atrophies, Hereditary