A carrier of Duchenne muscular dystrophy with dilated cardiomyopathy but no skeletal muscle symptom.
A 29-year-old female developed dilated cardiomyopathy at 20 years of age but with no muscle symptoms. Her 2-year-old son with Duchenne muscular dystrophy (DMD)_had no demonstrable deletion in the dystrophin gene, but all fibers except for 5% 'revertant' fibers in a muscle biopsy specimen had no dystrophin. Both skeletal and cardiac muscle biopsy specimens from the mother showed a mosaic distribution of dystrophin-positive and -negative fibers, and so she was diagnosed as being a manifesting carrier of DMD. We conclude that, when one encounters a female patient with idiopathic cardiomyopathy with a high serum creatine kinase level, the suspicion of her being a manifesting DMD carrier should be ruled out.
Kinoshita
H
H
Department of Child Neurology, National Center Hospital for Mental, Nervous and Muscular Disorders, National Center of Neurology and Psychiatry, (NCNP), Tokoyo, Japan.
Goto
Y
Y
Ishikawa
M
M
Uemura
T
T
Matsumoto
K
K
Hayashi
Y K
YK
Arahata
K
K
Nonaka
I
I
D000328:Adult; D002311:Cardiomyopathy, Dilated / Q000150:complications / Q000235:genetics*; D003402:Creatine Kinase / Q000097:blood; D016189:Dystrophin / Q000032:analysis; D005260:Female; D006579:Heterozygote; D006801:Humans; D018763:Muscle Fatigue / Q000502:physiology; D018482:Muscle, Skeletal / Q000737:chemistry / Q000503:physiopathology*; D009136:Muscular Dystrophies / Q000235:genetics*
D016189:Dystrophin; D003402:Creatine Kinase