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Article

Molecular diagnosis of dystrophinopathies in Morocco and report of six novel mutations.

Clinica chimica acta; international journal of clinical chemistry - 1 Jul 2020

El Kadiri Youssef, Selouani Yassir, Ratbi Ilham, Lyahyai Jaber, Zrhidri Abdelali, Sahli Maryem, Ouhenach Mouna, Jaouad Imane Cherkaoui, Sefiani Abdelaziz, Sbiti Aziza

Abstract excerpt

Dystrophinopathies are the most common genetic neuromuscular disorders during childhood, with an X-linked recessive inheritance pattern. Because of clinical and genetic heterogeneity of dystrophinopathies, genetic testing of dystrophin gene at Xp21.2 is constantly evolving. Multiplex Polymerase Chain Reaction (MPCR) is used in the first line to detect common exon deletions of dystrophin gene (accounting for 65%...

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PMID: 32169422
DOI: 10.1016/j.cca.2020.03.018

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