Myopathy with abnormal distribution of dystrophin, growth retardation, mental retardation, and hypospadia.
A 9-year-old boy with severe growth retardation, mild mental retardation, and hypospadia had a high serum CK level without muscle weakness and atrophy. Muscle biopsy revealed a moderate variation in fiber size with a few necrotic and scattered regenerating fibers. Although muscle membranes were clearly stained by immunostaining with antibody to dystrophin, N-terminal region (2-5E2), fibers in groups revealed striking, intense staining with the other antibody, C-terminal region (4C5), suggesting some aberration of the dystrophin gene near the C-terminal area. His unique clinical features, as well as myopathy, are reported, although further study is necessary to clarify the relationship between the anomalous conditions and dystrophin abnormalities.
Nagai
T
T
Department of Pediatrics, Tokyo Metropolitan Kiyose Children's Hospital, Japan.
Tuchiya
Y
Y
Maruyama
A
A
Sakuta
R
R
Nonaka
I
I
D000309:Adrenal Insufficiency / Q000235:genetics* / Q000473:pathology; D001706:Biopsy; D002648:Child; D015342:DNA Probes; D004392:Dwarfism / Q000235:genetics* / Q000473:pathology; D016189:Dystrophin / Q000032:analysis / Q000235:genetics*; D005455:Fluorescent Antibody Technique; D006801:Humans; D007021:Hypospadias / Q000235:genetics* / Q000473:pathology; D008607:Intellectual Disability / Q000235:genetics* / Q000473:pathology; D008297:Male; D009132:Muscles / Q000473:pathology; D009136:Muscular Dystrophies / Q000235:genetics* / Q000473:pathology
D015342:DNA Probes; D016189:Dystrophin