Becker muscular dystrophy: correlation of deletion type with clinical severity.
نویسندگان
چکیده
منابع مشابه
Becker muscular dystrophy: correlation of deletion type with clinical severity.
Molecular deletion screening with cDNA probes from the dystrophin gene was undertaken in patients with Becker muscular dystrophy from 58 separate families. Deletions were found in 41 (71%) of these families. Thirty-four (83%) of the deletions started in the same intron near the centre of the gene, and although there was no precise correlation between clinical severity and deletion pattern, the ...
متن کاملCorrelation of clinical and deletion data in Duchenne and Becker muscular dystrophy.
Cloned cDNA sequences representing exons from the Duchenne/Becker muscular dystrophy (DMD/BMD) gene were used for deletion screening in a population of 287 males males affected with DMD or BMD. The clinical phenotypes of affected boys were classified into three clinical severity groups based on the age at which ambulation was lost. Boys in group 1 had DMD, losing ambulation before their 13th bi...
متن کاملUnusual inheritance of Becker type muscular dystrophy.
A family with Becker type muscular dystrophy is described, in which two females were severely affected, giving the family tree the appearance of dominant inheritance.
متن کاملValley sign in Becker muscular dystrophy and outliers of Duchenne and Becker muscular dystrophy.
Valley sign has been described in patients with Duchenne muscular dystrophy (DMD). As there are genetic and clinical similarities between DMD and Becker muscular dystrophy (BMD), this clinical sign is evaluated in this study in BMD and DMD/BMD outliers. To evaluate the sign, 28 patients with Becker muscular dystrophy (BMD), 8 DMD/BMD outliers and 44 age-matched male controls with other neuromus...
متن کاملDeletion mutations in the dystrophin gene of Saudi patients with Duchenne and Becker muscular dystrophy.
OBJECTIVE The deletion in the dystrophin gene has been reported for many ethnic groups, but until now the mutations in this gene have not been thoroughly investigated in Saudi patients with Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD). We examined the deletion pattern in the dystrophin gene of the Saudi patients applying multiplex-polymerase chain reaction (PCR). The ai...
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ژورنال
عنوان ژورنال: Journal of Medical Genetics
سال: 1990
ISSN: 1468-6244
DOI: 10.1136/jmg.27.4.236