CONGENITAL MYOPATHIES (CNM)

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X-Linked myotubular myopathy (XLMTM) is a congenital myopathy caused by mutations in MTM1 gene encoding a 3-phosphoinositides phosphatase myotubularin. Typically, XLMTM patients clinically develop marked generalized hypotonia and muscle weakness with respiratory insufficiency since birth and pathologically show small-size fibers with peripheral halo and centrally-placed nuclei in the muscle. We performed RNA-seq screening on a cohort of 9 undiagnosed cases who were pathologically diagnosed as myotubular myopathy but had no mutation in exonic regions in MTM1.

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