Sophie Karolczak

X-linked myotubular myopathy, liver disease, and gene therapy

X-linked myotubular myopathy (XLMTM) is a rare and severe neuromuscular disorder commonly characterized by profound skeletal muscle weakness, significant co-morbid disabilities, and early death. XLMTM has traditionally been viewed as primarily a disorder of skeletal muscle. However, there is an emerging appreciation of...