Dystrophin immunohistochemistry in a symptomatic carrier of Becker muscular dystrophy.
Immunohistochemical localization of dystrophin was studied in a symptomatic carrier of Becker muscular dystrophy (BMD). Muscle biopsy specimens from a female carrier showed findings compatible with slowly progressive muscular dystrophy by ordinary histochemical examinations. Immunohistochemical study, using an antiserum raised against a synthetic peptide fragment of dystrophin, demonstrated a mixture of staining patterns, including continuous but faint positive fibres, partially disrupted fibres and negative fibres. These findings were identical to those of patients with BMD and appear to differ from previous findings in female carriers of Duchenne muscular dystrophy. This report is the first immunohistochemical study of a symptomatic female proven by molecular genetic analysis to be a carrier of BMD.
Department of Paediatrics, Tohoku University School of Medicine, Sendai, Japan.
K
K
Haginoya
K
K
Yamamoto
K
K
Iinuma
T
T
Yanagisawa
Y
Y
Ichinohasama
M
M
Shimmoto
Y
Y
Suzuki
K
K
Tada
D000328:Adult; D016189:Dystrophin / Q000032:analysis*; D005260:Female; D005455:Fluorescent Antibody Technique; D006579:Heterozygote; D006801:Humans; D009132:Muscles / Q000737:chemistry / Q000473:pathology; D009136:Muscular Dystrophies / Q000235:genetics / Q000378:metabolism* / Q000473:pathology; D012150:Polymorphism, Restriction Fragment Length
D016189:Dystrophin