The clinical, genetic and dystrophin characteristics of Becker muscular dystrophy
نویسندگان
چکیده
منابع مشابه
Dystrophin-related protein in Becker muscular dystrophy.
A benign Becker muscular dystrophy (BMD) patient with a marked decrease in dystrophin exhibited remarkable expression of dystrophin-related protein (DRP) on most of the muscle cell membrane. A phenotypic Duchenne muscular dystrophy patient with a truncated form of dystrophin exhibited no DRP expression on the muscle cell membrane except for the neuromuscular junction. Increased DRP expression m...
متن کاملDystrophin quantification and clinical correlations in Becker muscular dystrophy: implications for clinical trials.
Duchenne muscular dystrophy is caused by mutations in the DMD gene that disrupt the open reading frame and prevent the full translation of its protein product, dystrophin. Restoration of the open reading frame and dystrophin production can be achieved by exon skipping using antisense oligonucleotides targeted to splicing elements. This approach aims to transform the Duchenne muscular dystrophy ...
متن کاملDystrophin analysis using a panel of anti-dystrophin antibodies in Duchenne and Becker muscular dystrophy.
Dystrophin, the protein product of the Duchenne muscular dystrophy (DMD) gene, was studied in 19 patients with Xp21 disorders and in 25 individuals with non-Xp21 muscular dystrophy. Antibodies raised to seven different regions spanning most of the protein were used for immunocytochemistry. In all patients specific dystrophin staining anomalies were detected and correlated with clinical severity...
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...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Journal of Neurology
سال: 1993
ISSN: 0340-5354,1432-1459
DOI: 10.1007/bf00867363