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cge12279-sup-0001-AppendixS1.docxWord 2007 document33KAppendix S1. Clinical case report of affected individuals from three families.
cge12279-sup-0002-FigureS1.tifTIFF image4446KFig. S1. Various skeletomuscular deformities observed in affecteds with c10orf2 and SACS mutations. Pes cavus in AT1655 (a) and clubfoot deformity in AT1656 (b), claw hand deformity in both affecteds of Family A (c, d), Swan-neck deformity of right little finger (e) and foot deformity (f) in AT1926 of Family C are shown.
cge12279-sup-0003-FigureS2.tifTIFF image2062KFig. S2. MRI imaging in patients of Family A (c10orf2 change) and family C (SACS change). (i) Axial T1-WI (a) and T2-WI (b) show prominent of cerebellar folia and 4th ventricle suggesting pancerebellar atrophy (AT1655). (ii) Sagittal T2-WI (a) and axial T1-WI (b) show no evidence of cerebellar atrophy (AT1656). (iii) Sagittal T2-WI (a) and axial FLAIR (b) images show prominent cerebellar folia in superior vermian region suggesting superior vermian atrophy (AT1926). (iv) Sagittal T2-WI (a) and axial T2-WI (b) images show prominent cerebellar folia in superior vermian region suggesting superior vermian atrophy (AT1925).
cge12279-sup-0004-TableS1.docWord document29KTable S1. Phenotype-based categorization of early onset (<25 years) cases of cerebellar ataxias.
cge12279-sup-0005-TableS2.docWord document32KTable S2. Chromosomal regions mapped by homozygosity mapping in the three families.
cge12279-sup-0006-TableS3.docWord document44KTable S3. Details of exome sequencing with respect to read counts, depth of coverage, to counts, alignment and mapping statistics for each DNA sample sequenced.

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