Broad A bands of striated muscle in Leber's congenital amaurosis: a new congenital myopathy?
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.
Mrak
R E
RE
Department of Pediatrics, Arkansas Children's Hospital, Little Rock.
Lange
B
B
Brodsky
M C
MC
D001706:Biopsy; D006801:Humans; D007223:Infant; D008297:Male; D008854:Microscopy, Electron; D009132:Muscles / Q000648:ultrastructure*; D009210:Myofibrils / Q000648:ultrastructure; D015418:Optic Atrophies, Hereditary / Q000473:pathology*; D012518:Sarcomeres / Q000648:ultrastructure