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0:58
YouTube
MedLecturesMadeEasy
Myotonic dystrophy
Pathogenesis: Autosomal dominant CTG trinucleotide repeat expansion Longer repeat length correlating with earlier & more severe disease Presentation: Classic (adult): myotonia & weakness (eg, face, hands, ankles) Childhood: cognitive & behavioral difficulties (classic symptoms develop over time) Infantile: hypotonia, respiratory failure ...
2.3K views
Sep 16, 2023
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