Undetectable dystrophin can still result in a relatively benign phenotype of dystrophinopathy.
We present here a 28-year-old male patient with Becker muscular dystrophy whose skeletal muscle showed an absence of dystrophin. He has had progressive and predominantly proximal muscular wasting since 5 years of age, but was able to walk until 26 years of age. He showed hypertrophic calves, cardiomyopathy, and an elevated serum creatine kinase level (934 U/1). A skeletal muscle biopsy revealed advanced chronic myopathic changes. Immunohistochemical examination using anti-dystrophin antibodies against C-terminus showed deficiency of the protein. Rod domain and N-terminus were also absent in almost all muscle fibers, but only in a small part of the sample, they were faintly stained. beta-Dystroglycan and utrophin were present only in a small number of muscle fibers. DNA and RT-PCR analysis showed a frame-shift deletion of exons 3-7 in the dystrophin gene. In such an exceptional case as this one, it is important to investigate the factors which determine the severity of dystrophinopathy.
Department of Neurology, Osaka Prefectural General Hospital, Japan.
N
N
Hattori
M
M
Kaido
T
T
Nishigaki
K
K
Inui
H
H
Fujimura
T
T
Nishimura
T
T
Naka
T
T
Hazama
D000328:Adult; D015153:Blotting, Western; D004247:DNA / Q000032:analysis / Q000235:genetics; D016189:Dystrophin / Q000737:chemistry* / Q000235:genetics*; D006801:Humans; D007150:Immunohistochemistry; D008297:Male; D018908:Muscle Weakness / Q000209:etiology / Q000235:genetics / Q000473:pathology; D018482:Muscle, Skeletal / Q000378:metabolism / Q000473:pathology; D009136:Muscular Dystrophies / Q000235:genetics* / Q000378:metabolism* / Q000473:pathology; D009206:Myocardium / Q000473:pathology; D010641:Phenotype; D020133:Reverse Transcriptase Polymerase Chain Reaction
D016189:Dystrophin; D004247:DNA