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TranscriptomicsDystrophia Myotonica Biomarker Discovery Initiative
As part of the Dystrophia Myotonica Biomarker Discovery Initiative (DMBDI) a dataset was obtained from 35 participants, including 31 Myotonic Dystrophy type 1 (DM1) cases and four unaffected controls. All DM1 cases in this research were heterozygous for the abnormally expanded CTG repeat. The mode o...
ORGANISM(S): Homo sapiens 
2019-05-31 | E-MTAB-7983 | biostudies-arrayexpress
TranscriptomicsExpression and Splicing Analysis of Myotonic Dystrophy and Other Dystrophic Muscle
The prevailing patho-mechanistic paradigm for myotonic dystrophy (DM) is that the aberrant presence of embryonic isoforms is responsible for many, if not most, aspects of the pleiotropic disease phenotype. In order to identify such aberrantly expressed isoforms in skeletal muscle of DM type 1 (DM1)...
ORGANISM(S): Homo sapiens 
2016-01-05 | E-GEOD-48828 | biostudies-arrayexpress
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