Identification of different genomic deletions and one duplication in the dysferlin gene using multiplex ligation-dependent probe amplification and genomic quantitative PCR
Articolo
Data di Pubblicazione:
2009
Citazione:
Identification of different genomic deletions and one duplication in the dysferlin gene using multiplex ligation-dependent probe amplification and genomic quantitative PCR / M. Krahn, A. Borges, C. Navarro, R. Schuit, T. Stojkovic, Y. Torrente, N. Wein, C. Pécheux, N. Lévy. - In: GENETIC TESTING AND MOLECULAR BIOMARKERS. - ISSN 1945-0265. - 13:4(2009 Aug), pp. 439-442.
Abstract:
We report for the first time the characterization of disease-causing exonic rearrangements in the large-sized gene encoding dysferlin. A newly developed kit for multiplex ligation-dependent probe amplification analysis of the dysferlin gene was used for a total of 12 samples from patients with suspected diagnosis of primary dysferlinopathy. This analysis and subsequent genomic quantitative real-time PCR evidenced exonic rearrangements in five patients, including four different exonic deletions and one duplication. Altogether, our findings confirm the existence of exonic rearrangements as disease-causing mutations in primary dysferlinopathies.
Tipologia IRIS:
01 - Articolo su periodico
Keywords:
girdle muscular-dystrophy; miyoshi myopathy
Elenco autori:
M. Krahn, A. Borges, C. Navarro, R. Schuit, T. Stojkovic, Y. Torrente, N. Wein, C. Pécheux, N. Lévy
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