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 ...
In this report the genetic cause of autosomal dominant myofibrillar myopathy (MFM) with arrhythmogenic right ventricular cardiomyopathy (ARVC) in a Swedish family was investigated. We identified the ...
The histopathological studies of affected skeletal muscle biopsies from seven patients revealed focal disorganization of myofibrils, accumulation of granulofilamentous material and/or deposition of ...
Results of an international study published today in Autophagy and led by researchers from Monash University, School of Biological Sciences, provides renewed hope for children suffering from a ...
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 ...
The clinical diagnosis of sIBM is confirmed by muscle biopsy, and is aided by electromyography (EMG) and determination of serum muscle enzyme levels. Creatine kinase levels can initially be elevated ...
STATEN ISLAND, N.Y. — For Gabriella DiSalvo, it's not about winning — it's about equal opportunity. She demands it. OK, let's get this bit out of the way: Gabby, as her friends and family call her, ...
. Known as myofibrillar myopathies, these rare genetic diseases lead to progressive muscle wasting, affecting muscle function and causing weakness. Using the tiny zebrafish, Associate Professor Robert ...
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