| Autor: |
Nadira, Hamdouche, Yamina, Sifi, Djahida, Mahdi, Imen, Dalichaouche, Karima, Sifi, Noureddine, Abadi, Abderrahim, M' Zahem, Dalila, Satta |
| Předmět: |
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| Zdroj: |
South Asian Journal of Experimental Biology; 2020, Vol. 10 Issue 3, p176-182, 7p |
| Abstrakt: |
Duchenne and Becker muscular dystrophy (DMD/BMD) are the most common neuromuscular diseases caused by mutations in the dystrophin gene also called (DMD gene), located at Xp21. We report the clinical and genetic analysis of 74Algerian DMD/BMD patients from 62unrelated families who attended the neuromuscular unit of the University Hospital Center of Constantine between 2014 and 2017. After informed consent, multiplex polymerase chain reaction (mPCR)was established to identify deletions. All patients presented a classical phenotype dominated by a bilateral and symmetrical motor deficit predominantly proximal with calf hypertrophy in 91.6% of patients, with very high serum CK levels. Molecular analysis of the DMD gene showed, large deletions at all patients. Most of the deletions were between exons 44 and 53, the most frequent were deletions of exons 45-48, with exon 45 as the most common single exon deletion. Our study had generated considerable data on deletions that may promote future experimental therapies in Algeria. [ABSTRACT FROM AUTHOR] |
| Databáze: |
Complementary Index |
| Externí odkaz: |
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