The histopathological studies of affected skeletal muscle biopsies from seven patients revealed focal disorganization of myofibrils, accumulation of granulofilamentous material and/or deposition of ...

Stephen Greenspan and Laura Zah were devastated when they learned their son Alexander had a rare genetic mutation, which causes a deadly neuromuscular disease with no known treatment or cure. But the ...

The Brookbush Institute continues to enhance education with new articles, new courses, a modern glossary, an AI Tutor, ...

The goal of this study was to assess the role of the FLNC gene mutations as a cause of MFM in a series of cases of diverse origins studied and documented by an International MFM collaborative group.

Success in obtaining orphan drug (a drug used for treating rare disease) designation will accelerate the approval process of the new drug, including speeding up of the review process, waiver of the ...