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Missense Mutations in SPTLC2 Are Associated with HSAN-I
(A) Sequence trace files of the G382V mutation in families CMT-1117 (proband indicated by arrow) and CMT-1044.
(B) Isolated patient CMT-747.I:1 with the V359M mutation.
(C) Patient CMT-635.II:1 carrying a de novo I504F mutation.
(D) Severe ulcerations and deformation of the foot of patient CMT-635.II:1 at the age of 10 yrs.
Htz, heterozygous; WT, wild type.
