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Figure 1 | BMC Medical Genetics

Figure 1

From: Compound heterozygous mutations in glycyl-tRNA synthetase are a proposed cause of systemic mitochondrial disease

Figure 1

Sanger sequencing and segregation. (A) Pedigree of family with GARS mutations showing segregation of the two mutations found: c.1904C > T; p.Ser635Leu and c.1787G > A; p.Arg596Gln (NM_002047.2). The proband (solid circle) is a compound heterozygous with clinical features of a systemic mitochondrial disease. Her father (half shaded) shows mild sensorimotor polyneuropathy with axonal features. Her mother (small circle) is a carrier. (B) Sanger sequencing validation of GARS mutations identified by exome sequencing. (C) Conservation of the Arginine residue at position 596, and Serine residue at position 635 in the GARS protein.

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BMC Medical Genetics

ISSN: 1471-2350

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