Article

Neuropsychological deficits, structural brain changes and excessive daytime somnolence in myotonic dystrophy type 1

2019-01-01

Abstract excerpt

Myotonic dystrophy type 1 (DM1) is a dominantly inherited, multisystem condition, arising from pathological expansion of a CTG trinucleotide repeat. DM1 is characterised by myotonia, weakness and wasting of skeletal muscle, with additional features including ocular cataract, cardiac conduction abnormalities, hypogonadism, and cognitive deficits. The phenotype is highly variable, spanning a clinical continuum from...

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Literature Corpus work: 07c6be82-09af-5a5b-b5d3-474b5e7b4998
DOI: 10.5525/gla.thesis.41062

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