AIMC Topic: Myotonic Dystrophy
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A Phenotypic Description of Congenital Myotonic Dystrophy using PhenoStacks.
Journal of neuromuscular diseases
Jan 1, 2019
BACKGROUND: Congenital Myotonic Dystrophy (CDM1) is a rare neuromuscular condition caused by a triplet repeat expansion in the DMPK gene. Despite there being a well-recognized clinical syndrome, there has not been an effort to use a standardized onto...
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