Article
Molecular diagnosis of dystrophinopathies using a multi-technique analysis algorithm.
Muscle & nerve - 1 Feb 2014
Luce Leonela N, Ottaviani Daniela, Ferrer Marcela, Szijan Irene, Cotignola Javier, Giliberto Florencia
Abstract excerpt
INTRODUCTION: Dystrophinopathies are X-linked recessive neuromuscular diseases caused by mutations in the dystrophin gene. In this study we aimed to detect mutations within the dystrophin gene in DMD patients, to determine the carrier status of women, and to perform a prenatal diagnosis. METHODS: We analyzed 17 individuals from 2 unrelated families with a history of DMD. We used multiplex PCR, multiplex...
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