Article
Startle responses in Duchenne muscular dystrophy: a novel biomarker of brain dystrophin deficiency
2021-09-22
Abstract excerpt
Duchenne muscular dystrophy (DMD) is characterised by loss of dystrophin in muscle. Patients affected by DMD also have variable degree of intellectual disability and neurobehavioural co-morbidities. In contrast to muscle, in which a single full-length isoform (Dp427) is produced, multiple dystrophin isoforms are produced in the brain, and their deficiency accounts for the variability of CNS manifestations, with in...
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Identifiers and source
- Literature Corpus work
- 34e222e2-807f-5f2f-823b-b7de080c7ea8
- DOI
- 10.1101/2021.09.16.21263132