DMD and BMD in the same family due to distinct mutations.
Am J Med Genet
; 59(4): 501-5, 1995 Dec 04.
Article
em En
| MEDLINE
| ID: mdl-8585572
ABSTRACT
We report on a family with a boy affected by Duchenne muscular dystrophy (DMD) and an asymptomatic cousin with a Becker-type dystrophin abnormality, diagnosed by chance. Dystrophin gene analysis showed that these conditions were caused by two distinct deletions with breakpoints in different exons. In Xp21 families, DNA analysis and dystrophin testing of asymptomatic males with high CK plasma levels might detect different dystrophin mutations in separate haplotypes as in our family, although we stress there should be clear clinical or familial indications for such testing.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Distrofina
/
Distrofias Musculares
Limite:
Adolescent
/
Humans
/
Male
Idioma:
En
Ano de publicação:
1995
Tipo de documento:
Article