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Investigating the role of dystrophin isoform deficiency in motor function in Duchenne muscular dystrophy

26 Jan 2022

Abstract excerpt

BACKGROUND: Duchenne muscular dystrophy (DMD) is caused by DMD mutations leading to dystrophin loss. Full-length Dp427 is the primary dystrophin isoform expressed in muscle and is also expressed in the central nervous system (CNS). Two shorter isoforms, Dp140 and Dp71, are highly expressed in the CNS. While a role for Dp140 and Dp71 on DMD CNS comorbidities is well known, relationships between mutations expected...

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PMID: 35083887
DOI: 10.1002/jcsm.12914

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