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. 2018 Jan 22;75(4):495–502. doi: 10.1001/jamaneurol.2017.4373

Table 3. Description of the 8 New Mutations.

Patient No. (Geographic Origin) Nucleotide Change (Exon) Amino Acid Change Mutation Status
8 (Tunisia) c.809C>T (exon 6) p.Ser270Phe Compound heterozygous (c.875-1G>A (exon 7))
19 (France) c.336_337delCA (exon 3) p.His112Glnfsa10 Compound heterozygous (c.617C>T (exon 5) p.Pro206Leu)
30 (France) c.774_775insCTTTCAACTA(exon 6) p.Val259Leufsa14 Compound heterozygous (c.837G>A (exon 6) p.Trp279a)
32 (Turkey) c.940_956del17 (exon 7) p.Lys314Serfsa2 Homozygous
41 and 42 (Brazil) del exon 4 p.Glu162_Gln181del20 Homozygous
45 (the Netherlands) c.559C>T (exon 5) p.Gln187a Compound heterozygous (c.837G>A (exon 6) p.Trp279a)
46 and 47 (Morocco) c.585C>A (exon 5) p.Tyr195a Homozygous
48, 49, and 50 (India) c.596delG (exon 5) p.Arg199Leufsa15 Homozygous

Abbreviations: del, deletion; ins, insertion; fs, frameshift.

a

Indicates stop codon.