ArticleNeuromuscular disorders : NMD2007
Myofiber size correlates with MTM1 mutation type and outcome in X-linked myotubular myopathy.
Article in Neuromuscular disorders : NMD, 2007. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. It is linked to trial NCT00272883 (Molecular Analysis of Neuromuscular Disease), which is not on this map. Cited by 28 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Molecular Analysis of Neuromuscular Disease
Who cites it
28 citing papers in PubMed, 46 citations in OpenAlex.
- X-linked myotubular myopathy, liver disease, and gene therapy.Journal of neuromuscular diseases · 2026Review
- Establishment of normal myofiber size distribution in children and young adults.Journal of neuropathology and experimental neurology · 2025Article
- Signs and symptoms of carriers of non-Journal of neuromuscular diseases · 2025Article
- microRNA-133a as an indicator of disease progression and treatment response in X-linked myotubular myopathy.Molecular therapy. Nucleic acids · 2025Article
- Article
- X-Linked Myotubular Myopathy: A Novel Mutation Expanding the Genotypic Spectrum of a Phenotypically Heterogeneous Myopathy.Journal of pediatric genetics · 2023Article
- Novel Splicing Mutation inInternational journal of molecular sciences · 2022Article
- Mice with muscle-specific deletion of Bin1 recapitulate centronuclear myopathy and acute downregulation of dynamin 2 improves their phenotypes.Molecular therapy : the journal of the American Society of Gene Therapy · 2022Article
- Common Pathogenic Mechanisms in Centronuclear and Myotubular Myopathies and Latest Treatment Advances.International journal of molecular sciences · 2021Review
- Use of the Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP INTEND) in X-Linked Myotubular Myopathy: Content Validity and Psychometric Performance.Journal of neuromuscular diseases · 2021Article
- Mortality and respiratory support in X-linked myotubular myopathy: a RECENSUS retrospective analysis.Archives of disease in childhood · 2020Article
- A multicenter, retrospective medical record review of X-linked myotubular myopathy: The recensus study.Muscle & nerve · 2018Article
- Centronuclear myopathies under attack: A plethora of therapeutic targets.Journal of neuromuscular diseases · 2018Review
- Skeletal Muscle Pathology in X-Linked Myotubular Myopathy: Review With Cross-Species Comparisons.Journal of neuropathology and experimental neurology · 2016Review
- HACD1, a regulator of membrane composition and fluidity, promotes myoblast fusion and skeletal muscle growth.Journal of molecular cell biology · 2015Article
- Differential muscle hypertrophy is associated with satellite cell numbers and Akt pathway activation following activin type IIB receptor inhibition in Mtm1 p.R69C mice.The American journal of pathology · 2014Article
- Murine Fig4 is dispensable for muscle development but required for muscle function.Skeletal muscle · 2013Article
- Enzyme replacement therapy rescues weakness and improves muscle pathology in mice with X-linked myotubular myopathy.Human molecular genetics · 2013Article
- Defective autophagy and mTORC1 signaling in myotubularin null mice.Molecular and cellular biology · 2013Article
- Myotubular myopathy and the neuromuscular junction: a novel therapeutic approach from mouse models.Disease models & mechanisms · 2012Article
Corrections and comments
- Erratum issued
Authors and funding
4 authors at 2 institutions in 1 country.
Funding
Abstract
We aimed to correlate pathologic findings with MTM1 mutation type in a series of molecularly defined XLMTM cases. Clinical data from 15 XLMTM patients and their corresponding 16 muscle biopsies were studied. All patients were infants (range: 6-217 days old) when initially biopsied. The proportion of myofibers with central nuclei did not correlate with clinical outcome, however, morphometric studies showed that survivors had larger myofiber diameters in infancy than those who died (10.4+/-3.9microm versus 8.9+/-3microm; p<0.001). As a corollary, patients with MTM1 missense mutations had larger myofiber diameters (11.1+/-4microm), than those with truncation/deletion mutations (8.6+/-2.7microm) (controls 11.7+/-2.5microm) (p<0.0001). These data indicate that differences in myofiber size correlate with MTM1 mutation type and patient outcome. Failure to attain and/or maintain myofiber size, along with fiber type perturbations and the misplacement of myofiber nuclei and other organelles, are important components of XLMTM muscle pathology.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.