Dystrophin analysis in the differential diagnosis of autosomal recessive muscular dystrophy of childhood and Duchenne muscular dystrophy.
We report 2 patients with childhood autosomal recessive muscular dystrophy. Both patients had slight muscle weakness without enlargement of the calf muscles or involvement of the facial muscles. Their clinical courses are static. Muscle histology revealed characteristic features of muscular dystrophy. Dystrophin was identifiable in the sarcolemma of both patients by immunocytochemical staining with an antidystrophin antibody. At an early age, immunocytochemical analysis with antidystrophin antibody was useful in distinguishing between childhood autosomal recessive and Duchenne muscular dystrophies.
Department of Pediatrics, Sapporo Medical College, Japan.
N
N
Tachi
M
M
Tachi
K
K
Sasaki
N
N
Nagata
S
S
Chiba
D001706:Biopsy; D002648:Child; D002675:Child, Preschool; D002869:Chromosome Aberrations / Q000175:diagnosis / Q000235:genetics*; D025063:Chromosome Disorders; D003937:Diagnosis, Differential; D016189:Dystrophin / Q000032:analysis*; D005455:Fluorescent Antibody Technique; D005808:Genes, Recessive / Q000235:genetics*; D006801:Humans; D008297:Male; D009132:Muscles / Q000473:pathology*; D009136:Muscular Dystrophies / Q000175:diagnosis / Q000235:genetics*
D016189:Dystrophin