Open access
Oct 2026
Loss of protein function resulting in severe phenotypes of X-linked myotubular myopathy caused by novel synonymous and splice-site variants in the MTM1 gene.
BACKGROUND X-linked myotubular myopathy (XLMTM) is a severe, often neonatally lethal congenital neuromuscular disorder caused by pathogenic variants in the MTM1 gene. Affected neonates typically present with profound hypotonia, generalized muscle weakness, and respiratory insufficiency requiring immediate ventilatory s...
Jun-Fang Wang, Qin Cai, Wuhen Xu et al.
· Pediatrics and Neonatology · 0 citations