DMD and BMD in the same family due to two distinct mutations

Journal Article · Mon Dec 04 04:00:00 EST 1995 · American Journal of Medical Genetics

DOI:https://doi.org/10.1002/ajmg.1320590418· OSTI ID:443767

Morandi, L; Mora, M; Di Blasi, C; Brugnoni, R ^[1]

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1. National Inst. C. Besta, Milan (Italy); and others

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. 24 refs., 5 figs.

• Sponsoring Organization: USDOE
• OSTI ID: 443767
• Journal Information: American Journal of Medical Genetics, Journal Name: American Journal of Medical Genetics Journal Issue: 4 Vol. 59; ISSN 0148-7299; ISSN AJMGDA
• Country of Publication: United States
• Language: English

Related Subjects

55 BIOLOGY AND MEDICINE
BASIC STUDIES
CHROMOSOMAL ABERRATIONS
DIAGNOSIS
GENE MUTATIONS
GENES
GENETIC MAPPING
GENETICS
HEREDITARY DISEASES
HUMAN X CHROMOSOME
MUSCLES
PATIENTS
PHENOTYPE
POLYMERASE CHAIN REACTION
RFLPS