Additional file 2: of Identification of a novel genetic locus underlying tremor and dystonia

Variants in candidate interval. (PDF 217 kb

Additional file 4: of Identification of a novel genetic locus underlying tremor and dystonia

CAMTA2 expression in brain. (PDF 1628 kb

Additional file 1: Table S1. of A substitution mutation in cardiac ubiquitin ligase, FBXO32, is associated with an autosomal recessive form of dilated cardiomyopathy

Forty-eight OMIM genes implicated in dilated and hypertrophic familial cardiomyopathy that were screened for all the homozygous variants detected by whole exome sequencing. All of the identified 62 variants have been previously reported in the dbSNP and/or 1000 Genomes databases as polymorphisms, except for two novel variants in TNN and SGCD genes, which were found to be intronic. (DOCX 17 kb

Additional file 1: of A first-line diagnostic assay for limb-girdle muscular dystrophy and other myopathies

Clinical characteristics and biopsy results of index cases for families studied. (DOCX 223 kb

Additional file 2: of A first-line diagnostic assay for limb-girdle muscular dystrophy and other myopathies

Genes included in the neurological panel. (DOC 97 kb