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Fig. 1 | BMC Neurology

Fig. 1

From: Genotype-phenotype correlations of adult-onset PLA2G6-associated Neurodegeneration: case series and literature review

Fig. 1

Family pedigree and genetic analysis of an index family. (a) Pedigree of an index family with compound heterozygous c.991G > T (p.Asp331Tyr) and c.1077G > A (M358IfsX) mutations in PLA2G6. WT, wild type. Open symbol: unaffected; filled symbol: affected; symbol with a diagonal line: deceased; diamond: total number of children, unknown sex; arrow: proband. (b) Sanger sequencing traces confirm the heterozygous PLA2G6 c.991G > T (p.Asp331Tyr) missense mutation. (c) Sanger sequencing traces confirm the heterozygous PLA2G6 c.1077G > A (M358IfsX) frame-shift mutation

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BMC Neurology

ISSN: 1471-2377

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