Phenotypic Duchenne muscular dystrophy with C-terminal domain.

doi:10.1016/0887-8994(92)90373-7

Back to search

Article

Phenotypic Duchenne muscular dystrophy with C-terminal domain.

Pediatric neurology - 1 Jan 2000

Higuchi I, Fukunaga H, Usuki F, Moritoyo T, Osame M

Abstract excerpt

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...

Topics

Adolescent
Antibodies, Monoclonal
Biopsy
Chromosome Deletion
Dystrophin
Exons
Genetic Linkage
Humans
Immunoblotting
Male
Muscles
Muscular Dystrophies
Phenotype
Polymerase Chain Reaction
Sex Chromosome Aberrations
Terminator Regions, Genetic
X Chromosome

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

discussions

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.