Healio

Manage pattern dystrophy like AMD, surgeon says

Pattern dystrophy is a little-known maculopathy that is different from age-related macular degeneration but can be managed similarly, according to Michael L. Klein, MD. Pattern dystrophy (PD) is a ...
Healio

Patient suspected of having either AMD or pattern dystrophy

A 52-year-old man was referred to the New England Eye Center for evaluation with the presumptive diagnosis of either age-related macular degeneration or pattern dystrophy. The patient said that he was ...
Nature

Presence of palmar xanthomas in myotonic dystrophy identifies different patterns of linkage disequilibrium between the apolipoprotein E and myotonic dystrophy protein kinase loci

In the general population, palmar xanthomas are a characteristic of type III dysbetalipoproteinemia (type III), an atherogenic lipid disorder characterized by the presence of very low-density ...
Nature

Tissue- and age-specific DNA replication patterns at the CTG/CAG-expanded human myotonic dystrophy type 1 locus

Myotonic dystrophy, caused by DM1 CTG/CAG repeat expansions, shows varying instability levels between tissues and across ages within patients. We determined DNA replication profiles at the DM1 locus ...