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1 tant decrease in succinate levels in patient myotubular cell lines after ASO treatment.
2  have shown that both patient fibroblast and myotubular cell lines displayed an increase in complex I
3 pon ASO treatment, levels of SDHB in patient myotubular cell lines increased to levels observed in co
4 ines increased to levels observed in control myotubular cell lines.
5                                              Myotubular myopathy (MTM) is a devastating pediatric neu
6                                     X-linked myotubular myopathy (MTM) is a severe neuromuscular dise
7 in, involved in the pathogenesis of X-linked myotubular myopathy (MTM1) was isolated recently.
8                                     X-linked myotubular myopathy (XLMTM) is a congenital disorder cau
9                                     X-linked myotubular myopathy (XLMTM) is a fatal congenital disord
10                                     X-linked myotubular myopathy (XLMTM) is a severe congenital disea
11 most severe and often fatal X-linked form of myotubular myopathy (XLMTM) is caused by mutations in th
12  treatment exists for patients with X-linked myotubular myopathy (XLMTM), a fatal congenital muscle d
13 M1 gene encoding myotubularin cause X-linked myotubular myopathy (XLMTM), a well-defined subtype of h
14 ompromised in mice deficient in the X-linked myotubular myopathy (XLMTM)-associated PtdIns(3)P phosph
15 a pediatric disease of skeletal muscle named myotubular myopathy (XLMTM).
16  Duchenne muscular dystrophy [DMD]; X-linked myotubular myopathy [XLMTM]; and diseases of the central
17        MTM1 and MTM2 are mutated in X-linked myotubular myopathy and Charcot-Marie-Tooth disease (typ
18       Two different human diseases, X-linked myotubular myopathy and Charcot-Marie-Tooth disease, res
19 for the use of PtdIns 3-kinase inhibitors in myotubular myopathy and suggesting that unbalanced PtdIn
20 mily cause the human neuromuscular disorders myotubular myopathy and type 4B Charcot-Marie-Tooth synd
21  Mutations in the MTM1 gene that cause human myotubular myopathy dramatically reduce the ability of t
22                                     X-linked myotubular myopathy is a congenital myopathy caused by d
23                                              Myotubular myopathy is a prototypical disorder of phosph
24                                     X-linked myotubular myopathy is a rare, life-threatening, congeni
25                                     X-linked myotubular myopathy is a severe congenital myopathy caus
26                             Testing MSB in a myotubular myopathy model that is driven by loss of MTM1
27 o provide in vivo evidence in the congenital myotubular myopathy mouse model (knock-out for the myotu
28                  Most children with X-linked myotubular myopathy who received MTM1 gene replacement t
29 uded boys younger than 5 years with X-linked myotubular myopathy who required mechanical ventilator s
30 ) result in X-linked CNM (XLCNM, also called myotubular myopathy), which promotes severe neonatal hyp
31                                     X-linked myotubular myopathy, a severe congenital disorder charac
32 tide phosphatase that is mutated in X-linked myotubular myopathy, a severe neonatal disorder in which
33                  MTM1 is mutated in X-linked myotubular myopathy, and MTMR2 and MTMR13 are mutated in
34 utated in a subset of patients with X-linked myotubular myopathy, and Sbf1, a newly isolated homologu
35 underlying hepatobiliary disease in X-linked myotubular myopathy, and the need for monitoring of live
36                 In a mouse model of X-linked myotubular myopathy, the best vectors-AAVMYO2 and AAVMYO
37                                     X-linked myotubular myopathy, the most common severe form of CNM,
38 ember of this family, is mutated in X-linked myotubular myopathy, whereas mutations in the MTM-relate
39 myopathic Mtm1delta4 mouse model of X-linked myotubular myopathy.
40 c of muscle fibers in patients with X-linked myotubular myopathy.
41 is mutated in the genetic disorder, X-linked myotubular myopathy.
42 -193189 promoted the contractile activity of myotubular networks in vitro.