GNE myopathy is an ultrarare muscle disease characterized by slowly progressive muscle weakness. Symptoms typically start in early adulthood, with weakness and atrophy in the tibialis anterior muscles ...
Lack of effective treatment for myofibrillar myopathy Myofibrillar myopathy, primarily caused by genetic mutations, including the BAG3 gene, is a rare hereditary neuromuscular disorder with symptoms ...
Methods: In this cohort study, we performed the first large clinical exome sequencing (ES) study with phenotype correlation on 207 clinically well-characterized inherited myopathy-suspected patients ...
Some results have been hidden because they may be inaccessible to you
Show inaccessible results
Feedback