Paper · 9106535

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

van der Kooi AJ and 5 others. Am J Hum Genet, 1997. Cited by 100 papers, by iCite.

11 sourcespapers-2026-11-12-0.1.0

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ConductScience Library. Genetic localization of a newly recognized autosomal dominant limb-girdle muscular dystrophy with cardiac involvement (LGMD1B) to chromosome 1q11-21. Papers, record 9106535. Release papers-2026-11-12-0.1.0, 12 Nov 2026. https://conductscience.org/library/papers/9106535

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Paper

PubMed's record of the paper, with iCite's citation figures. No abstract is shown.

Title: Genetic localization of a newly recognized autosomal dominant limb-girdle muscular dystrophy with cardiac involvement (LGMD1B) to chromosome 1q11-21.; PubMed
Journal: Am J Hum Genet; PubMed
Year: 1997; PubMed
Publication types: Journal Article; PubMed
PubMed: https://pubmed.ncbi.nlm.nih.gov/9106535/; PubMed
PMC: https://pmc.ncbi.nlm.nih.gov/articles/PMC1712459/; PubMed
The journal: https://conductscience.org/library/journal-index/0370475; PubMed
Citations, by iCite: 100; iCite
Relative citation ratio, by iCite: 2.19; iCite
Revised in PubMed: 2020-08-24; PubMed

Authors6

The authors in the order PubMed's record lists them, with the ORCID iDs it states.

Order	Author	Forename
1	van der Kooi AJ	A J
2	van Meegen M	M
3	Ledderhof TM	T M
4	McNally EM	E M
5	de Visser M	M
6	Bolhuis PA	P A

Source PubMed

Topics12

NLM's MeSH indexing of the paper, its major topics first.

MeSH term	Major
Chromosome Mapping	Major topic
Chromosomes, Human, Pair 1	Major topic
Genes, Dominant	Major topic
Heart Diseases	Major topic
Muscular Dystrophies	Major topic
Adolescent
Female
Genetic Markers
Humans
Lod Score
Male
Microsatellite Repeats

Source PubMed

Grants0

Each grant PubMed's record writes, matched to the NIH project NIH's grant and paper links name for this paper, and each of those links the record does not write.

None in this release.

Trials1

The trials whose ClinicalTrials.gov record lists the paper, and the trial numbers the paper's PubMed record names.

Trial	Title	The trial lists it as	Named in the paper's record
NCT00138931	Genetics of Cardiovascular and Neuromuscular Disease	Background

Source ClinicalTrials.gov

Comments and corrections0

PubMed's comments and corrections, NLM's own indexing: retractions first, then expressions of concern, errata and updates, and comments last.

None in this release.

References30

The papers the reference list in PubMed's record names, those in our copy of PubMed, in the list's order.

Order	PMID	Title	Journal	Year	In Papers	Source
1	3,708,775	Evolution of a hereditary cardiac conduction and muscle disorder: a study involving a family with six generations affected.	Circulation	1986	https://conductscience.org/library/papers/3708775	PubMed
2	3,275,904	Clinical and genetic investigation in autosomal dominant limb-girdle muscular dystrophy.	Neurology	1988	https://conductscience.org/library/papers/3275904	PubMed
3	2,811,944	Mapping a gene for familial hypertrophic cardiomyopathy to chromosome 14q1.	N Engl J Med	1989	https://conductscience.org/library/papers/2811944	PubMed
4	2,209,092	Four genes for the calpain family locate on four distinct human chromosomes.	Cytogenet Cell Genet	1990	https://conductscience.org/library/papers/2209092	PubMed
5	1,901,754	A gene for limb-girdle muscular dystrophy maps to chromosome 15 by linkage.	C R Acad Sci III	1991	https://conductscience.org/library/papers/1901754	PubMed
6	1,598,902	Confirmation of genetic heterogeneity in limb-girdle muscular dystrophy: linkage of an autosomal dominant form to chromosome 5q.	Am J Hum Genet	1992	https://conductscience.org/library/papers/1598902	PubMed
7	1,505,977	Confirmation of linkage of limb-girdle muscular dystrophy, type 2, to chromosome 15.	Genomics	1992	https://conductscience.org/library/papers/1505977	PubMed
8	1,303,286	Linkage of Tunisian autosomal recessive Duchenne-like muscular dystrophy to the pericentromeric region of chromosome 13q.	Nat Genet	1992	https://conductscience.org/library/papers/1303286	PubMed
9	8,504,498	X-linked dilated cardiomyopathy. Molecular genetic evidence of linkage to the Duchenne muscular dystrophy (dystrophin) gene at the Xp21 locus.	Circulation	1993	https://conductscience.org/library/papers/8504498	PubMed
10	8,327,508	A familial hypertrophic cardiomyopathy locus maps to chromosome 15q2.	Proc Natl Acad Sci U S A	1993	https://conductscience.org/library/papers/8327508	PubMed

1 to 10 of 30

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Cited by23

The papers in our copy of PubMed whose reference list names this one, newest first. iCite, which reads more sources, counts 100 citations.

PMID	Title	Journal	Year	In Papers	Source
33,917,623	Role of Cdkn2a in the Emery-Dreifuss Muscular Dystrophy Cardiac Phenotype.	Biomolecules	2021	https://conductscience.org/library/papers/33917623	PubMed
33,036,437	Need for NAD+: Focus on Striated Muscle Laminopathies.	Cells	2020	https://conductscience.org/library/papers/33036437	PubMed
30,781,376	The Cutting Edge: The Role of mTOR Signaling in Laminopathies.	Int J Mol Sci	2019	https://conductscience.org/library/papers/30781376	PubMed
30,425,656	The Pathogenesis and Therapies of Striated Muscle Laminopathies.	Front Physiol	2018	https://conductscience.org/library/papers/30425656	PubMed
23,632,945	Clinical phenotype, muscle MRI and muscle pathology of LGMD1F.	J Neurol	2013	https://conductscience.org/library/papers/23632945	PubMed
20,068,593	A new locus on 3p23-p25 for an autosomal-dominant limb-girdle muscular dystrophy, LGMD1H.	Eur J Hum Genet	2010	https://conductscience.org/library/papers/20068593	PubMed
17,265,058	A new evidence for the maintenance of the sarcoglycan complex in muscle sarcolemma in spite of the primary absence of delta-SG protein.	J Mol Med (Berl)	2007	https://conductscience.org/library/papers/17265058	PubMed
17,176,482	Differential expression profiling between the relative normal and dystrophic muscle tissues from the same LGMD patient.	J Transl Med	2006	https://conductscience.org/library/papers/17176482	PubMed
16,980,655	Respiratory involvement in inherited primary muscle conditions.	J Neurol Neurosurg Psychiatry	2006	https://conductscience.org/library/papers/16980655	PubMed
15,789,136	A new LMNA mutation causing limb girdle muscular dystrophy 1B.	J Neurol	2005	https://conductscience.org/library/papers/15789136	PubMed

1 to 10 of 23

See all 23 cited by

Genes1

The genes the Gene search release ties to the paper: Swiss-Prot's references first, then PubTator's text mining.

Gene	NCBI Gene ID	Linked by	In Genes
LMNA	4,000	PubTator's text mining	https://conductscience.org/library/genes/4000

Source NCBI Gene

Drugs0

The drugs whose trials, in the Pipelines release, list the paper.

None in this release.

Data0

The data bank entries PubMed's record names. Trial numbers are under Trials.

None in this release.

Data dates

The date of each source this release read.

PubMed: 2026-11-06; PubMed
iCite: 2026-11-05; iCite
PMC's ID file: 2026-11-05; PMC's ID file
NIH RePORTER's grant and paper links: 2026-11-01; NIH RePORTER's grant and paper links
Trials: 2026-11-12
Gene search: 2026-11-11
Pipelines: 2026-09-18

Sources 11

ChEMBL, through Open TargetsCC BY-SA 3.0
ClinicalTrials.govNo license stated
HGNCCC0
iCiteCC BY 4.0
NCBI GenePublic domain (US government)
NIH RePORTER's grant and paper linksPublic domain
Open TargetsCC0 1.0
PMC's ID filePublic domain (US government)
PubMedNLM's terms
PubTator 3Public domain
UniProtCC BY 4.0

Each source's terms

ChEMBL, through Open TargetsCC BY-SA 3.0, for the parts from ChEMBL. Read on 8 Nov 2026 at https://platform-docs.opentargets.org/licence
ClinicalTrials.govnone stated
HGNCCC0: https://www.genenames.org/about/license/
iCiteCC BY 4.0
NCBI GeneNone named for the file. NCBI says information created by or for the US government on its site is in the public domain, and asks that NLM be acknowledged: https://www.ncbi.nlm.nih.gov/home/about/policies/
NIH RePORTER's grant and paper linksPublic domain (NIH RePORTER)
Open TargetsCC0 1.0. Open Targets asks that users cite its latest paper: Buniello et al. 2025, Open Targets Platform: facilitating therapeutic hypotheses building in drug discovery, Nucleic Acids Research 53(D1):D1467, PMID 39657122. Read on 8 Nov 2026 at https://platform-docs.opentargets.org/licence
PMC's ID fileNone named for the file. NCBI says information created by or for the US government on its site is in the public domain, and asks that NLM be acknowledged: https://www.ncbi.nlm.nih.gov/home/about/policies/
PubMedNLM's terms
PubTator 3Public domain
UniProtCC BY 4.0. UniProt's licence file: "All databases and documents in the UniProt FTP directory may be copied and redistributed freely, without advance permission, provided that this copyright statement is reproduced with each copy." UniProt asks that users cite its latest paper: The UniProt Consortium, UniProt: the Universal Protein Knowledgebase in 2025, Nucleic Acids Research 53:D609-D617, https://doi.org/10.1093/nar/gkae1010. Read on 9 Nov 2026 at https://www.uniprot.org/help/license

ClinicalTrials.gov's data carry an international copyright outside the United States: https://clinicaltrials.gov/about-site/terms-conditions.

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