Diagnosis of becker muscular dystrophy: Results of Re-analysis of DNA samples.
Muscle Nerve
; 53(1): 44-8, 2016 Jan.
Article
in En
| MEDLINE
| ID: mdl-25900853
ABSTRACT
INTRODUCTION:
The phenotype of Becker muscular dystrophy (BMD) is highly variable, and the disease may be underdiagnosed. We searched for new mutations in the DMD gene in a cohort of previously undiagnosed patients who had been referred in the period 1985-1995.METHODS:
All requests for DNA analysis of the DMD gene in probands with suspected BMD were re-evaluated. If the phenotype was compatible with BMD, and no deletions or duplications were detected, DNA samples were screened for small mutations.RESULTS:
In 79 of 185 referrals, no mutation was found. Analysis could be performed on 31 DNA samples. Seven different mutations, including 3 novel ones, were found. Long-term clinical follow-up is described.CONCLUSIONS:
Refining DNA analysis in previously undiagnosed cases can identify mutations in the DMD gene and provide genetic diagnosis of BMD. A delayed diagnosis can still be valuable for the proband or the relatives of BMD patients.Key words
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
DNA Mutational Analysis
/
Dystrophin
/
Muscular Dystrophy, Duchenne
/
Mutation
Type of study:
Diagnostic_studies
/
Observational_studies
/
Prognostic_studies
Limits:
Female
/
Humans
/
Male
Language:
En
Journal:
Muscle Nerve
Year:
2016
Document type:
Article
Affiliation country:
Países Bajos