Phenotypic Duchenne muscular dystrophy with C-terminal domain.
We report a patient with X-linked muscular dystrophy who had rapidly progressive muscle weakness and became wheelchair-bound at age 10 years. Clinically, he was diagnosed as having Duchenne muscular dystrophy; however, he was diagnosed as having Becker muscular dystrophy by dystrophin tests using a C-terminal monoclonal antibody. No immunolabelling was observed with a monoclonal antibody against the N-terminal domain. Multiplex polymerase chain reaction analysis revealed the deletion of exons 3-19. The data suggest that the deletion of the N-terminal domain of dystrophin can cause a severe phenotype even when the C-terminus of the protein is well preserved.
Higuchi
I
I
Third Department of Internal Medicine, Faculty of Medicine, Kagoshima, Japan.
Fukunaga
H
H
Usuki
F
F
Moritoyo
T
T
Osame
M
M
D000293:Adolescent; D000911:Antibodies, Monoclonal; D001706:Biopsy; D002872:Chromosome Deletion; D016189:Dystrophin / Q000235:genetics*; D005091:Exons / Q000235:genetics; D008040:Genetic Linkage / Q000235:genetics*; D006801:Humans; D015151:Immunoblotting; D008297:Male; D009132:Muscles / Q000473:pathology; D009136:Muscular Dystrophies / Q000235:genetics* / Q000473:pathology; D010641:Phenotype; D016133:Polymerase Chain Reaction; D012729:Sex Chromosome Aberrations / Q000235:genetics* / Q000473:pathology; D013728:Terminator Regions, Genetic / Q000235:genetics*; D014960:X Chromosome
D000911:Antibodies, Monoclonal; D016189:Dystrophin