AIMC Topic: Myotonic Dystrophy

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Emerging therapeutic strategies in muscular dystrophy: an updated review on pathogenesis and treatment advances.

Molecular biology reports
Muscular dystrophy (MD) comprises a class of genetic conditions characterized by the progressive degeneration and weakness of skeletal muscle. Genetic etiologies differ among the major muscular dystrophies: myotonic dystrophy type 1 (DM1) is linked t...

A Phenotypic Description of Congenital Myotonic Dystrophy using PhenoStacks.

Journal of neuromuscular diseases
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...