Evidence map›Paper›PMID 34011573›Full record

ArticleNeurology2021

Spectrum of Clinical Features in X-Linked Myotubular Myopathy Carriers: An International Questionnaire Study.

Stacha F I Reumers, Frederik Braun, Jennifer E Spillane, Johann Böhm, Maartje Pennings, Meyke Schouten, Anneke J van der Kooi, A Reghan Foley, Carsten G Bönnemann, Erik-Jan Kamsteeg and 4 more

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Article in Neurology, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.

0numbers the graph read from it
0cells of the map it votes in
9citing papers in PubMed
1.0field-weighted citation impact, top 26% of its field
1 · What the graph read from it

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.

2 · The registry

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.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

9 citing papers in PubMed, 15 citations in OpenAlex.

  1. Review
  2. Article
  3. Article
  4. Signs and symptoms of carriers of non-Journal of neuromuscular diseases · 2025
    Article
  5. Females with X-Linked Muscle Disorders: an underestimated patient population.Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology · 2025
    Review
  6. Article
  7. Article
  8. Review
  9. [Clinical and genetic features of 5 neonates with centronuclear myopathy caused byZhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics
    Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

14 authors at 1 institution in 4 countries.

Stacha F I ReumersFrom the Department of Neurology (S.F.I.R., N.C.V.), Donders Institute for Brain, Cognition and Behaviour, Department of Human Genetics (M.P., E.-j.K.), and Department of Clinical Genetics (M.S.), Radboud University Medical Center, Nijmegen, the Netherlands; Department of Pediatric Neurology and Neuromuscular Centre (F.B., U.S.-S.), University Hospital Essen, Germany; Department of Neurology (J.E.S.), St. Thomas Hospital, and Department of Paediatric Neurology (H.J.), Neuromuscular Service, Evelina's Children Hospital, Guy's & St. Thomas' Hospital NHS Foundation Trust, London, UK; Department of Neurobiology and Genetics (J.B.), Institut de Génétique et de Biologie Moléculaire et Cellulaire, Illkirch, France; Department of Neurology (A.J.v.d.K.), Amsterdam University Medical Center, Neuroscience Institute, the Netherlands; Neuromuscular and Neurogenetic Disorders of Childhood Section (A.R.F., C.G.B.), National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD; Department of Pediatric Neurology (C.E.E.), Radboud University Medical Center Amalia Children's Hospital, Nijmegen, the Netherlands; and Muscle Signalling Section (H.J.), Randall Division for Cell and Molecular Biophysics, King's College, London, UK.ORCID 0000-0003-0767-9063
Frederik BraunFrom the Department of Neurology (S.F.I.R., N.C.V.), Donders Institute for Brain, Cognition and Behaviour, Department of Human Genetics (M.P., E.-j.K.), and Department of Clinical Genetics (M.S.), Radboud University Medical Center, Nijmegen, the Netherlands; Department of Pediatric Neurology and Neuromuscular Centre (F.B., U.S.-S.), University Hospital Essen, Germany; Department of Neurology (J.E.S.), St. Thomas Hospital, and Department of Paediatric Neurology (H.J.), Neuromuscular Service, Evelina's Children Hospital, Guy's & St. Thomas' Hospital NHS Foundation Trust, London, UK; Department of Neurobiology and Genetics (J.B.), Institut de Génétique et de Biologie Moléculaire et Cellulaire, Illkirch, France; Department of Neurology (A.J.v.d.K.), Amsterdam University Medical Center, Neuroscience Institute, the Netherlands; Neuromuscular and Neurogenetic Disorders of Childhood Section (A.R.F., C.G.B.), National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD; Department of Pediatric Neurology (C.E.E.), Radboud University Medical Center Amalia Children's Hospital, Nijmegen, the Netherlands; and Muscle Signalling Section (H.J.), Randall Division for Cell and Molecular Biophysics, King's College, London, UK.ORCID 0000-0002-3601-2746
Jennifer E SpillaneFrom the Department of Neurology (S.F.I.R., N.C.V.), Donders Institute for Brain, Cognition and Behaviour, Department of Human Genetics (M.P., E.-j.K.), and Department of Clinical Genetics (M.S.), Radboud University Medical Center, Nijmegen, the Netherlands; Department of Pediatric Neurology and Neuromuscular Centre (F.B., U.S.-S.), University Hospital Essen, Germany; Department of Neurology (J.E.S.), St. Thomas Hospital, and Department of Paediatric Neurology (H.J.), Neuromuscular Service, Evelina's Children Hospital, Guy's & St. Thomas' Hospital NHS Foundation Trust, London, UK; Department of Neurobiology and Genetics (J.B.), Institut de Génétique et de Biologie Moléculaire et Cellulaire, Illkirch, France; Department of Neurology (A.J.v.d.K.), Amsterdam University Medical Center, Neuroscience Institute, the Netherlands; Neuromuscular and Neurogenetic Disorders of Childhood Section (A.R.F., C.G.B.), National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD; Department of Pediatric Neurology (C.E.E.), Radboud University Medical Center Amalia Children's Hospital, Nijmegen, the Netherlands; and Muscle Signalling Section (H.J.), Randall Division for Cell and Molecular Biophysics, King's College, London, UK.ORCID 0000-0003-0102-6133
Johann BöhmFrom the Department of Neurology (S.F.I.R., N.C.V.), Donders Institute for Brain, Cognition and Behaviour, Department of Human Genetics (M.P., E.-j.K.), and Department of Clinical Genetics (M.S.), Radboud University Medical Center, Nijmegen, the Netherlands; Department of Pediatric Neurology and Neuromuscular Centre (F.B., U.S.-S.), University Hospital Essen, Germany; Department of Neurology (J.E.S.), St. Thomas Hospital, and Department of Paediatric Neurology (H.J.), Neuromuscular Service, Evelina's Children Hospital, Guy's & St. Thomas' Hospital NHS Foundation Trust, London, UK; Department of Neurobiology and Genetics (J.B.), Institut de Génétique et de Biologie Moléculaire et Cellulaire, Illkirch, France; Department of Neurology (A.J.v.d.K.), Amsterdam University Medical Center, Neuroscience Institute, the Netherlands; Neuromuscular and Neurogenetic Disorders of Childhood Section (A.R.F., C.G.B.), National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD; Department of Pediatric Neurology (C.E.E.), Radboud University Medical Center Amalia Children's Hospital, Nijmegen, the Netherlands; and Muscle Signalling Section (H.J.), Randall Division for Cell and Molecular Biophysics, King's College, London, UK.ORCID 0000-0001-8019-9504
Maartje PenningsFrom the Department of Neurology (S.F.I.R., N.C.V.), Donders Institute for Brain, Cognition and Behaviour, Department of Human Genetics (M.P., E.-j.K.), and Department of Clinical Genetics (M.S.), Radboud University Medical Center, Nijmegen, the Netherlands; Department of Pediatric Neurology and Neuromuscular Centre (F.B., U.S.-S.), University Hospital Essen, Germany; Department of Neurology (J.E.S.), St. Thomas Hospital, and Department of Paediatric Neurology (H.J.), Neuromuscular Service, Evelina's Children Hospital, Guy's & St. Thomas' Hospital NHS Foundation Trust, London, UK; Department of Neurobiology and Genetics (J.B.), Institut de Génétique et de Biologie Moléculaire et Cellulaire, Illkirch, France; Department of Neurology (A.J.v.d.K.), Amsterdam University Medical Center, Neuroscience Institute, the Netherlands; Neuromuscular and Neurogenetic Disorders of Childhood Section (A.R.F., C.G.B.), National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD; Department of Pediatric Neurology (C.E.E.), Radboud University Medical Center Amalia Children's Hospital, Nijmegen, the Netherlands; and Muscle Signalling Section (H.J.), Randall Division for Cell and Molecular Biophysics, King's College, London, UK.
Meyke SchoutenFrom the Department of Neurology (S.F.I.R., N.C.V.), Donders Institute for Brain, Cognition and Behaviour, Department of Human Genetics (M.P., E.-j.K.), and Department of Clinical Genetics (M.S.), Radboud University Medical Center, Nijmegen, the Netherlands; Department of Pediatric Neurology and Neuromuscular Centre (F.B., U.S.-S.), University Hospital Essen, Germany; Department of Neurology (J.E.S.), St. Thomas Hospital, and Department of Paediatric Neurology (H.J.), Neuromuscular Service, Evelina's Children Hospital, Guy's & St. Thomas' Hospital NHS Foundation Trust, London, UK; Department of Neurobiology and Genetics (J.B.), Institut de Génétique et de Biologie Moléculaire et Cellulaire, Illkirch, France; Department of Neurology (A.J.v.d.K.), Amsterdam University Medical Center, Neuroscience Institute, the Netherlands; Neuromuscular and Neurogenetic Disorders of Childhood Section (A.R.F., C.G.B.), National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD; Department of Pediatric Neurology (C.E.E.), Radboud University Medical Center Amalia Children's Hospital, Nijmegen, the Netherlands; and Muscle Signalling Section (H.J.), Randall Division for Cell and Molecular Biophysics, King's College, London, UK.
Anneke J van der KooiFrom the Department of Neurology (S.F.I.R., N.C.V.), Donders Institute for Brain, Cognition and Behaviour, Department of Human Genetics (M.P., E.-j.K.), and Department of Clinical Genetics (M.S.), Radboud University Medical Center, Nijmegen, the Netherlands; Department of Pediatric Neurology and Neuromuscular Centre (F.B., U.S.-S.), University Hospital Essen, Germany; Department of Neurology (J.E.S.), St. Thomas Hospital, and Department of Paediatric Neurology (H.J.), Neuromuscular Service, Evelina's Children Hospital, Guy's & St. Thomas' Hospital NHS Foundation Trust, London, UK; Department of Neurobiology and Genetics (J.B.), Institut de Génétique et de Biologie Moléculaire et Cellulaire, Illkirch, France; Department of Neurology (A.J.v.d.K.), Amsterdam University Medical Center, Neuroscience Institute, the Netherlands; Neuromuscular and Neurogenetic Disorders of Childhood Section (A.R.F., C.G.B.), National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD; Department of Pediatric Neurology (C.E.E.), Radboud University Medical Center Amalia Children's Hospital, Nijmegen, the Netherlands; and Muscle Signalling Section (H.J.), Randall Division for Cell and Molecular Biophysics, King's College, London, UK.ORCID 0000-0002-5261-5512
A Reghan FoleyFrom the Department of Neurology (S.F.I.R., N.C.V.), Donders Institute for Brain, Cognition and Behaviour, Department of Human Genetics (M.P., E.-j.K.), and Department of Clinical Genetics (M.S.), Radboud University Medical Center, Nijmegen, the Netherlands; Department of Pediatric Neurology and Neuromuscular Centre (F.B., U.S.-S.), University Hospital Essen, Germany; Department of Neurology (J.E.S.), St. Thomas Hospital, and Department of Paediatric Neurology (H.J.), Neuromuscular Service, Evelina's Children Hospital, Guy's & St. Thomas' Hospital NHS Foundation Trust, London, UK; Department of Neurobiology and Genetics (J.B.), Institut de Génétique et de Biologie Moléculaire et Cellulaire, Illkirch, France; Department of Neurology (A.J.v.d.K.), Amsterdam University Medical Center, Neuroscience Institute, the Netherlands; Neuromuscular and Neurogenetic Disorders of Childhood Section (A.R.F., C.G.B.), National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD; Department of Pediatric Neurology (C.E.E.), Radboud University Medical Center Amalia Children's Hospital, Nijmegen, the Netherlands; and Muscle Signalling Section (H.J.), Randall Division for Cell and Molecular Biophysics, King's College, London, UK.ORCID 0000-0003-2168-1119
Carsten G BönnemannFrom the Department of Neurology (S.F.I.R., N.C.V.), Donders Institute for Brain, Cognition and Behaviour, Department of Human Genetics (M.P., E.-j.K.), and Department of Clinical Genetics (M.S.), Radboud University Medical Center, Nijmegen, the Netherlands; Department of Pediatric Neurology and Neuromuscular Centre (F.B., U.S.-S.), University Hospital Essen, Germany; Department of Neurology (J.E.S.), St. Thomas Hospital, and Department of Paediatric Neurology (H.J.), Neuromuscular Service, Evelina's Children Hospital, Guy's & St. Thomas' Hospital NHS Foundation Trust, London, UK; Department of Neurobiology and Genetics (J.B.), Institut de Génétique et de Biologie Moléculaire et Cellulaire, Illkirch, France; Department of Neurology (A.J.v.d.K.), Amsterdam University Medical Center, Neuroscience Institute, the Netherlands; Neuromuscular and Neurogenetic Disorders of Childhood Section (A.R.F., C.G.B.), National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD; Department of Pediatric Neurology (C.E.E.), Radboud University Medical Center Amalia Children's Hospital, Nijmegen, the Netherlands; and Muscle Signalling Section (H.J.), Randall Division for Cell and Molecular Biophysics, King's College, London, UK.ORCID 0000-0002-5930-2324
Erik-Jan KamsteegFrom the Department of Neurology (S.F.I.R., N.C.V.), Donders Institute for Brain, Cognition and Behaviour, Department of Human Genetics (M.P., E.-j.K.), and Department of Clinical Genetics (M.S.), Radboud University Medical Center, Nijmegen, the Netherlands; Department of Pediatric Neurology and Neuromuscular Centre (F.B., U.S.-S.), University Hospital Essen, Germany; Department of Neurology (J.E.S.), St. Thomas Hospital, and Department of Paediatric Neurology (H.J.), Neuromuscular Service, Evelina's Children Hospital, Guy's & St. Thomas' Hospital NHS Foundation Trust, London, UK; Department of Neurobiology and Genetics (J.B.), Institut de Génétique et de Biologie Moléculaire et Cellulaire, Illkirch, France; Department of Neurology (A.J.v.d.K.), Amsterdam University Medical Center, Neuroscience Institute, the Netherlands; Neuromuscular and Neurogenetic Disorders of Childhood Section (A.R.F., C.G.B.), National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD; Department of Pediatric Neurology (C.E.E.), Radboud University Medical Center Amalia Children's Hospital, Nijmegen, the Netherlands; and Muscle Signalling Section (H.J.), Randall Division for Cell and Molecular Biophysics, King's College, London, UK.ORCID 0000-0001-6480-1892
Corrie E ErasmusFrom the Department of Neurology (S.F.I.R., N.C.V.), Donders Institute for Brain, Cognition and Behaviour, Department of Human Genetics (M.P., E.-j.K.), and Department of Clinical Genetics (M.S.), Radboud University Medical Center, Nijmegen, the Netherlands; Department of Pediatric Neurology and Neuromuscular Centre (F.B., U.S.-S.), University Hospital Essen, Germany; Department of Neurology (J.E.S.), St. Thomas Hospital, and Department of Paediatric Neurology (H.J.), Neuromuscular Service, Evelina's Children Hospital, Guy's & St. Thomas' Hospital NHS Foundation Trust, London, UK; Department of Neurobiology and Genetics (J.B.), Institut de Génétique et de Biologie Moléculaire et Cellulaire, Illkirch, France; Department of Neurology (A.J.v.d.K.), Amsterdam University Medical Center, Neuroscience Institute, the Netherlands; Neuromuscular and Neurogenetic Disorders of Childhood Section (A.R.F., C.G.B.), National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD; Department of Pediatric Neurology (C.E.E.), Radboud University Medical Center Amalia Children's Hospital, Nijmegen, the Netherlands; and Muscle Signalling Section (H.J.), Randall Division for Cell and Molecular Biophysics, King's College, London, UK.ORCID 0000-0002-6657-941X
Ulrike Schara-SchmidtFrom the Department of Neurology (S.F.I.R., N.C.V.), Donders Institute for Brain, Cognition and Behaviour, Department of Human Genetics (M.P., E.-j.K.), and Department of Clinical Genetics (M.S.), Radboud University Medical Center, Nijmegen, the Netherlands; Department of Pediatric Neurology and Neuromuscular Centre (F.B., U.S.-S.), University Hospital Essen, Germany; Department of Neurology (J.E.S.), St. Thomas Hospital, and Department of Paediatric Neurology (H.J.), Neuromuscular Service, Evelina's Children Hospital, Guy's & St. Thomas' Hospital NHS Foundation Trust, London, UK; Department of Neurobiology and Genetics (J.B.), Institut de Génétique et de Biologie Moléculaire et Cellulaire, Illkirch, France; Department of Neurology (A.J.v.d.K.), Amsterdam University Medical Center, Neuroscience Institute, the Netherlands; Neuromuscular and Neurogenetic Disorders of Childhood Section (A.R.F., C.G.B.), National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD; Department of Pediatric Neurology (C.E.E.), Radboud University Medical Center Amalia Children's Hospital, Nijmegen, the Netherlands; and Muscle Signalling Section (H.J.), Randall Division for Cell and Molecular Biophysics, King's College, London, UK.ORCID 0000-0001-5833-2751
Heinz JungbluthFrom the Department of Neurology (S.F.I.R., N.C.V.), Donders Institute for Brain, Cognition and Behaviour, Department of Human Genetics (M.P., E.-j.K.), and Department of Clinical Genetics (M.S.), Radboud University Medical Center, Nijmegen, the Netherlands; Department of Pediatric Neurology and Neuromuscular Centre (F.B., U.S.-S.), University Hospital Essen, Germany; Department of Neurology (J.E.S.), St. Thomas Hospital, and Department of Paediatric Neurology (H.J.), Neuromuscular Service, Evelina's Children Hospital, Guy's & St. Thomas' Hospital NHS Foundation Trust, London, UK; Department of Neurobiology and Genetics (J.B.), Institut de Génétique et de Biologie Moléculaire et Cellulaire, Illkirch, France; Department of Neurology (A.J.v.d.K.), Amsterdam University Medical Center, Neuroscience Institute, the Netherlands; Neuromuscular and Neurogenetic Disorders of Childhood Section (A.R.F., C.G.B.), National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD; Department of Pediatric Neurology (C.E.E.), Radboud University Medical Center Amalia Children's Hospital, Nijmegen, the Netherlands; and Muscle Signalling Section (H.J.), Randall Division for Cell and Molecular Biophysics, King's College, London, UK.ORCID 0000-0002-7159-3427
Nicol C VoermansFrom the Department of Neurology (S.F.I.R., N.C.V.), Donders Institute for Brain, Cognition and Behaviour, Department of Human Genetics (M.P., E.-j.K.), and Department of Clinical Genetics (M.S.), Radboud University Medical Center, Nijmegen, the Netherlands; Department of Pediatric Neurology and Neuromuscular Centre (F.B., U.S.-S.), University Hospital Essen, Germany; Department of Neurology (J.E.S.), St. Thomas Hospital, and Department of Paediatric Neurology (H.J.), Neuromuscular Service, Evelina's Children Hospital, Guy's & St. Thomas' Hospital NHS Foundation Trust, London, UK; Department of Neurobiology and Genetics (J.B.), Institut de Génétique et de Biologie Moléculaire et Cellulaire, Illkirch, France; Department of Neurology (A.J.v.d.K.), Amsterdam University Medical Center, Neuroscience Institute, the Netherlands; Neuromuscular and Neurogenetic Disorders of Childhood Section (A.R.F., C.G.B.), National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD; Department of Pediatric Neurology (C.E.E.), Radboud University Medical Center Amalia Children's Hospital, Nijmegen, the Netherlands; and Muscle Signalling Section (H.J.), Randall Division for Cell and Molecular Biophysics, King's College, London, UK. nicol.voermans@radboudumc.nl.ORCID 0000-0002-5837-7295
St Thomas' Hospital · GB

Funding

Molecular and Clinical Manifestations of Matrix and Aggregate MyopathiesZIANS003129 · NINDS · NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE · PI BÖNNEMANN, CARSTEN · 2011 to 2025
$52.8M
6 · The paper itself

Abstract

objectiveTo characterize the spectrum of clinical features in a cohort of X-linked myotubular myopathy (XL-MTM) carriers, including prevalence, genetic features, clinical symptoms, and signs, as well as associated disease burden.

methodsWe performed a cross-sectional online questionnaire study among XL-MTM carriers. Participants were recruited from patient associations, medical centers, and registries in the United Kingdom, Germany, and the Netherlands. We used a custom-made questionnaire, the Checklist Individual Strength (CIS), the Frenchay Activities Index (FAI), the Short Form 12 (SF-12) health survey, and the McGill Pain Questionnaire. Carriers were classified as manifesting or nonmanifesting on the basis of self-reported ambulation and muscle weakness.

resultsThe prevalence of manifesting carriers in this study population (n = 76) was 51%, subdivided into mild (independent ambulation, 39%), moderate (assisted ambulation, 9%), and severe (wheelchair dependent, 3%) phenotypes. In addition to muscle weakness, manifesting carriers frequently reported fatigue (70%) and exercise intolerance (49%). Manifesting carriers scored higher on the overall CIS (

conclusionsThe prevalence of manifesting XL-MTM carriers may be higher than currently assumed, most having a mild phenotype and a wide variety of symptoms. Manifesting carriers are particularly affected by fatigue, limitations of daily activities, pain, and reduced quality of life. Our findings should increase awareness and provide useful information for health care providers and future clinical trials.

Indexed as

HeterozygoteAdultAgedCost of IllnessCross-Sectional StudiesExerciseFatigueFemaleGermanyHumansMaleMiddle AgedMuscle WeaknessMyopathies, Structural, CongenitalNetherlandsPain MeasurementmyotubularinProtein Tyrosine Phosphatases, Non-Receptor

Identifiers

PMID34011573
PMCPMC8356379
OpenAlexW3160247096

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