To the Editor: Utrophin is an autosomally inherited proteinencoded by chromosome 6 that is homologous to dystrophin andlocalized in normal adult muscle exclusively at neuromuscularjunctions.1 No clinical disorder is recognized that relatesto altered utrophin expression. Rather, utrophin levels havealways been reported to increase in the absence of dystrophinin Duchenne's muscular dystrophy1,2,3,4 (and unpublished data)or of adhalin (50-kd dystrophin-associated glycoprotein) insevere autosomal recessive muscular dystrophy of childhood2(and unpublished data). We describe a patient with defects ofboth dystrophin and utrophin in muscle fibers.
Clinically, the patient had early-onset Duchenne's musculardystrophy. He . . . [Full Text of this Article]
Kleopa, K. A., Drousiotou, A., Mavrikiou, E., Ormiston, A., Kyriakides, T.
(2006). Naturally occurring utrophin correlates with disease severity in Duchenne muscular dystrophy. Hum Mol Genet
15: 1623-1628
[Abstract][Full Text]
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