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Fig. 3 | BMC Pediatrics

Fig. 3

From: Compound heterozygous POMGNT1 mutations leading to muscular dystrophy-dystroglycanopathy type A3: a case report

Fig. 3

Sanger sequencing chromatograms of the proband (a) and his parents (b - father and c - mother). Sequencing showed the proband to be compound heterozygous for c.1539 + 1G > A and c.385C > T mutations of the POMGNT1. Mutation c.1539 + 1G > A present in the father and mutation c.385C > T present in the mother

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BMC Pediatrics

ISSN: 1471-2431

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