Cross-species transcriptomic atlas of X-linked Myotubular Myopathy identifies unique, treatment responsive myofiber populations
X-linked myotubular myopathy (XLMTM) is a congenital muscle disease caused by loss-of-function variants in MTM1, leading to profound skeletal muscle weakness and early mortality. Centrally nucleated muscle fibers are the pathologic hallmark of the disease; however, the identity of these fibers and their contribution to the disease process are unknown. We sought to elucidate the unique cellular…
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