Article
Increased polyamines as protective disease modifiers in congenital muscular dystrophy.
Human molecular genetics - 1 Jun 2018
Kemaladewi D U, Benjamin J S, Hyatt E, Ivakine E A, Cohn R D
Abstract excerpt
Most Mendelian disorders, including neuromuscular disorders, display extensive clinical heterogeneity that cannot be solely explained by primary genetic mutations. This phenotypic variability is largely attributed to the presence of disease modifiers, which can exacerbate or lessen the severity and progression of the disease. LAMA2-deficient congenital muscular dystrophy (LAMA2-CMD) is a fatal degenerative muscle...
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