TY - JOUR
T1 - Broad a bands of striated muscle in leber's congenital amaurosis
T2 - A new congenital myopathy?
AU - Mrak, Robert E.
AU - Lange, Bernadette
AU - Brodsky, Michael C.
PY - 1993/4
Y1 - 1993/4
N2 - 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.
AB - 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.
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U2 - 10.1212/wnl.43.4.838
DO - 10.1212/wnl.43.4.838
M3 - Article
C2 - 8469351
AN - SCOPUS:0027481240
SN - 0028-3878
VL - 43
SP - 838
EP - 841
JO - Neurology
JF - Neurology
IS - 4
ER -