OBJECTIVE: To study the prevalence, type, and features of pattern dystrophy in patients with pseudoxanthoma elasticum (PXE). METHODS: A search of the photographic records at the Vanderbilt Eye ...

A new discovery about how tiny protein clusters form in cells could pave the way for treatments for Emery-Dreifuss muscular ...

The findings also demonstrate why mutations in alpha-catenin lead to butterfly-shaped pattern dystrophy (BPD), a rare eye disease which causes the buildup of pigmented material in the retina.

Duchenne muscular dystrophy (DMD) is a genetic condition that primarily affects people assigned male at birth. However, due to the condition’s X-linked inheritance pattern, only people assigned ...

While some forms of MD, like Duchenne Muscular Dystrophy, primarily affect boys due to dystrophin gene mutations, others, like Limb-Girdle and Myotonic MD, have distinct patterns and impacts.

Researchers combined advanced imaging techniques and theoretical physics to observe and explain how nanoclusters of the protein emerin form inside living cells. The study uncovers the molecular 'rules ...

Neuroimaging at 36 gestational weeks demonstrated diffuse T2-hyperintense signal of the supratentorial white matter and a simplified gyration and sulcation pattern. Follow-up imaging showed ...