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Fig. 1 | BMC Neurology

Fig. 1

From: Novel copy number variation of COLQ gene in a Moroccan patient with congenital myasthenic syndrome: a case report and review of the literature

Fig. 1

Genealogical and molecular data of the Moroccan family with a novel CNV in the COLQ gene. A The family pedigree illustrates the affected patient (homozygous for the mutation) and both parents (Heterozygous carriers). The black arrow indicates the proband. B The representative amplification plots of the target gene (COLQ). C The representative amplification plots of the endogenous gene (housekeeping gene). Both Real-time PCR amplification plots show various amounts of the amplified region in the proband, both parents and two normal controls with determination of mean threshold cycle (Ct) values using QuantStudioTM Real-Time PCR Software v1.7.1 (Applied Biosystems, Thermo Fisher Scientific). D Bar graph showed the copy number results calculated from delta-delta Ct

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BMC Neurology

ISSN: 1471-2377

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