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Fig. 1 | BMC Neurology

Fig. 1

From: A case report of an intermediate phenotype between congenital myasthenic syndrome and D-2- and L-2-hydroxyglutaric aciduria due to novel SLC25A1 variants

Fig. 1

Results of the Sanger sequencing. Electropherograms of the Sanger sequencing show the two heterozygous variants (c.145G > A on the left and c.628C > T on the right) in the patient. The mother was heterozygous for c.145G > A, while the father was heterozygous for c.628C > T. The sister was heterozygous for c.628C > T (p.R210X). The variants are indicated by the black arrows

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BMC Neurology

ISSN: 1471-2377

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