loss has been directly linked to increased myotonia and reduced functional chloride currents. 2. Neuromuscular Junction Defects
The most prominent symptom of DM is muscle stiffness (myotonia) and progressive wasting. Studies have shown that the sequestration of MBNL proteins, including and its close relatives, causes splicing abnormalities in the Chloride Channel 1 ( ) gene, which is critical for muscle relaxation. loss has been directly linked to increased myotonia
This article delves into the molecular role of MBXL, its relationship with other MBNL proteins, and how their sequestration drives the clinical manifestations of Myotonic Dystrophy. What is MBXL? including and its close relatives