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Fig. 3 | Italian Journal of Pediatrics

Fig. 3

From: A missense mutation in PDHB gene: identification of the patient with pyruvate dehydrogenase deficiency and demonstration of pathogenicity in vitro

Fig. 3

The patient’s family pedigree. The c.575G > T mutation in PDH E1 β subunit was found in PDHB gene of this proband. The patient’s parents, each of whom carries a point mutation in the c.575G > T mutation in PDH E1 β subunit. The patient’s brothers are the same carrier. E1, physical examination; E2, whole-exome next-generation sequencing; P, proband

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Italian Journal of Pediatrics

ISSN: 1824-7288

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