Evidence map›Paper›PMID 34581780›Full record

ArticleBrain : a journal of neurology2021

MLIP causes recessive myopathy with rhabdomyolysis, myalgia and baseline elevated  serum creatine kinase.

Osorio Lopes Abath Neto, Livija Medne, Sandra Donkervoort, Maria Elena Rodríguez-García, Véronique Bolduc, Ying Hu, Eleonora Guadagnin, A Reghan Foley, John F Brandsema, Allan M Glanzman and 21 more

Open access · bronzeAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Brain : a journal of neurology, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.

0numbers the graph read from it
0cells of the map it votes in
11citing papers in PubMed
1.7field-weighted citation impact, top 15% 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

11 citing papers in PubMed, 24 citations in OpenAlex.

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4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

31 authors at 10 institutions in 6 countries.

Osorio Lopes Abath NetoNeuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.
Livija MedneDivision of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Sandra DonkervoortNeuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.
Maria Elena Rodríguez-GarcíaGrupo de Enfermedades Raras, Mitocondriales y Neuromusculares (ERMN), Instituto de Investigación Hospital 12 de Octubre, Madrid, Spain.
Véronique BolducNeuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.
Ying HuNeuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.
Eleonora GuadagninNeuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.
A Reghan FoleyNeuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.
John F BrandsemaDivision of Neurology, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Allan M GlanzmanDivision of Neurology, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Gihan I TennekoonDivision of Neurology, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Mariarita SantiDepartment of Pathology, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Justin H BergerDivision of Cardiology, Children's Hospital of Philadelphia, Philadelphia, PA, USA.ORCID 0000-0002-1454-0097
Lynn A MegeneyOttawa Hospital Research Institute, Ottawa ON, Canada.
Hirofumi KomakiNational Center of Neurology and Psychiatry, Tokyo, Japan.
Michio InoueNational Center of Neurology and Psychiatry, Tokyo, Japan.
Francisco Javier Cotrina-VinagreGrupo de Enfermedades Raras, Mitocondriales y Neuromusculares (ERMN), Instituto de Investigación Hospital 12 de Octubre, Madrid, Spain.
Aurelio Hernández-LainServicio de Anatomía Patológica (Neuropatología), Hospital 12 de Octubre, Madrid, Spain.
Elena Martin-HernándezCentro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Madrid, Spain.
Linford WilliamsDivision of Medical Genetics, Children's Hospital of Pittsburgh, Pittsburgh, PA, USA.
Sabine BorellDepartment of Neuropediatrics and Muscle Disorders, Medical Center, University of Freiburg, Faculty of Medicine, University of Freiburg, Germany.
David SchorlingDepartment of Neuropediatrics and Muscle Disorders, Medical Center, University of Freiburg, Faculty of Medicine, University of Freiburg, Germany.
Kimberly LinDivision of Cardiology, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Konstantinos KolokotronisInstitute of Human Genetics, Biocenter, Julius-Maximilians-University Würzburg, Würzburg, Germany.ORCID 0000-0002-8840-6026
Uta Lichter-KoneckiDivision of Medical Genetics, Children's Hospital of Pittsburgh, Pittsburgh, PA, USA.
Janbernd KirschnerDepartment of Neuropediatrics and Muscle Disorders, Medical Center, University of Freiburg, Faculty of Medicine, University of Freiburg, Germany.
Ichizo NishinoNational Center of Neurology and Psychiatry, Tokyo, Japan.
Brenda BanwellDivision of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Francisco Martínez-AzorínGrupo de Enfermedades Raras, Mitocondriales y Neuromusculares (ERMN), Instituto de Investigación Hospital 12 de Octubre, Madrid, Spain.
Patrick G BurgonDepartment of Chemistry and Earth Science, College of Arts and Sciences, Qatar University, Qatar.ORCID 0000-0003-4771-023X
Carsten G BönnemannNeuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.
Children's Hospital of Philadelphia · USNational Institutes of Health · USNational Center of Neurology and Psychiatry · JPResearch Institute Hospital 12 de Octubre · ESUniversity of Freiburg · DEChildren's Hospital of Pittsburgh · USCentre for Biomedical Network Research on Rare Diseases · ESOttawa Hospital · CAQatar University · QAUniversity of Würzburg · DE

Funding

Training in Molecular Therapeutics for Pediatric CardiologyT32HL007915 · NHLBI · CHILDREN'S HOSP OF PHILADELPHIA · PI Robert J Levy, JOSEPH W ROSSANO · 1999 to 2026
$13.4M
CIHR MOP119470NHLBI NIH HHS T32 HL007915
6 · The paper itself

Abstract

Striated muscle needs to maintain cellular homeostasis in adaptation to increases in physiological and metabolic demands. Failure to do so can result in rhabdomyolysis. The identification of novel genetic conditions associated with rhabdomyolysis helps to shed light on hitherto unrecognized homeostatic mechanisms. Here we report seven individuals in six families from different ethnic backgrounds with biallelic variants in MLIP, which encodes the muscular lamin A/C-interacting protein, MLIP. Patients presented with a consistent phenotype characterized by mild muscle weakness, exercise-induced muscle pain, variable susceptibility to episodes of rhabdomyolysis, and persistent basal elevated serum creatine kinase levels. The biallelic truncating variants were predicted to result in disruption of the nuclear localizing signal of MLIP. Additionally, reduced overall RNA expression levels of the predominant MLIP isoform were observed in patients' skeletal muscle. Collectively, our data increase the understanding of the genetic landscape of rhabdomyolysis to now include MLIP as a novel disease gene in humans and solidifies MLIP's role in normal and diseased skeletal muscle homeostasis.

Indexed as

Creatine KinaseAdolescentChildChild, PreschoolCo-Repressor ProteinsFemaleGenetic VariationHumansMaleMuscular DiseasesMyalgiaNuclear ProteinsRhabdomyolysisYoung AdultCo-Repressor ProteinsCreatine KinaseMLIP protein, mouseNuclear ProteinscardiomyopathyhyperCKemiaMLIPmyopathyrhabdomyolysis

Identifiers

PMID34581780
PMCPMC8536936
OpenAlexW3204845205

What OpenQuestion holds

Textmetadata
Read underepoch 390

Registered trials

None linked

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.