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Fig. 2 | BMC Medical Genetics

Fig. 2

From: Genomic analysis of a spinal muscular atrophy (SMA) discordant family identifies a novel mutation in TLL2, an activator of growth differentiation factor 8 (myostatin): a case report

Fig. 2

Genetic map of SMA related locus and reads coverages of candidate SMA modifiers. a SMN and their surrounding genes are contained within two large inverted genomic fragments within the region on chromosome 5q13. SMN1 is located within the telomeric copy whereas SMN2 is contained within the centromeric copy. The surrounding genes include SERF1, NAIP and GTF2H2, which are reported as candidate modifiers in SMA. The arrows indicate their directions. b, c, d The reads coverages in the b SERF1, c NAIP and d GTF2H2 exon regions for each family member. The grey peaks indicate the richness of the reads that mapped to the corresponding exon region in each sample

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