Evidence map›Paper›PMID 9106535›Full record

ArticleAmerican journal of human genetics1997

Genetic localization of a newly recognized autosomal dominant limb-girdle muscular dystrophy with cardiac involvement (LGMD1B) to chromosome 1q11-21.

A J van der Kooi, M van Meegen, T M Ledderhof, E M McNally, M de Visser, P A Bolhuis

Registry-linked trialAbstract read
In one paragraph

Article in American journal of human genetics, 1997. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT00138931 (Genetic Studies of Patients and Their Families With Inherited Cardiovascular and Neuromuscular Diseases.), which is not on this map. Cited by 23 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
23citing papers in PubMed, 1 pooled it
5.0field-weighted citation impact, top 4% 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.

NCT00138931 recruitingnot on this map

Genetic Studies of Patients and Their Families With Inherited Cardiovascular and Neuromuscular Diseases.

TypeobservationalSponsorUniversity of ChicagoRan1996 to 2030Enrolled2,000ConditionsCardiomyopathy, Arrhythmia, Muscular DystrophyArmsBlood draw (genetic testing)
3 · Its place in the literature

Who cites it

23 citing papers in PubMed, 1 synthesis or guideline pooled it, 135 citations in OpenAlex.

  1. Pooled it
  2. Role ofBiomolecules · 2021
    Article
  3. Need for NADCells · 2020
    Review
  4. The Cutting Edge: The Role of mTOR Signaling in Laminopathies.International journal of molecular sciences · 2019
    Review
  5. Review
  6. Article
  7. Article
  8. Article
  9. Article
  10. Respiratory involvement in inherited primary muscle conditions.Journal of neurology, neurosurgery, and psychiatry · 2006
    Review
  11. Article
  12. Review
  13. myotilin Mutation found in second pedigree with LGMD1A.American journal of human genetics · 2002
    Article
  14. Cardiovascular Complications of Neuromuscular Disorders.Current treatment options in cardiovascular medicine · 2002
    Article
  15. Article
  16. Article
  17. Article
  18. Article
  19. Article
  20. 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

6 authors at 3 institutions in 2 countries.

A J van der KooiDepartment of Neurology, Academic Medical Center, Amsterdam, The Netherlands.
M van Meegen
T M Ledderhof
E M McNally
M de Visser
P A Bolhuis
University of Amsterdam · NLAcademic Medical Center · NLHarvard University Press · US

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Limb-girdle muscular dystrophy (LGMD) constitutes a clinically and genetically heterogeneous group of myogenic disorders with a limb-girdle distribution of weakness. One autosomal dominant family, LGMD1A, has been linked to chromosome 5q, whereas in other autosomal dominant families linkage to this chromosome has been excluded. We studied 58 members of three families with a newly recognized autosomal dominantly inherited LGMD with cardiac involvement. A search with highly polymorphic microsatellite markers was carried out. The gene for this newly recognized dominant form of LGMD was located on chromosome 1q11-21, with a combined maximum two-point LOD score >12 at theta = 0.

Indexed as

Chromosome MappingGenes, DominantAdolescentChromosomes, Human, Pair 1FemaleGenetic MarkersHeart DiseasesHumansLod ScoreMaleMicrosatellite RepeatsMuscular DystrophiesGenetic Markers

Identifiers

PMID9106535
PMCPMC1712459
OpenAlexW1582562385

What OpenQuestion holds

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Read underepoch 390

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.