NIH R01 · 2025
X-linked myotubular myopathy (XLMTM) is a devastating childhood muscle disease characterized clinically by severe weakness and early death and pathologically by small myofibers that contain disorganized organelles and myonuclei with aberrant appearance and localization. XLMTM is caused by mutations in the MTM1 gene. How MTM1 mutations cause these phenotypes is not well known, and this lack of knowledge presents a key barrier for disease understanding and therapy development. Myotubularin (MTM1) encodes a 3-position phosphoinositide phosphatase that in vitro localizes to the endosome and has role(s) in regulating endosomal vesicular sorting. In exciting new data, we have discovered for the…
From the public funding record at NIH RePORTER. Describes the funded project, not the reviews below.