Paper · 2568091

Brother/sister pairs affected with early-onset, progressive muscular dystrophy: molecular studies reveal etiologic heterogeneity.

Francke U and 4 others. Am J Hum Genet, 1989. Cited by 22 papers, by iCite.

11 sourcespapers-2026-11-12-0.1.0

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ConductScience Library. Brother/sister pairs affected with early-onset, progressive muscular dystrophy: molecular studies reveal etiologic heterogeneity. Papers, record 2568091. Release papers-2026-11-12-0.1.0, 12 Nov 2026. https://conductscience.org/library/papers/2568091

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Paper

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

Title: Brother/sister pairs affected with early-onset, progressive muscular dystrophy: molecular studies reveal etiologic heterogeneity.; PubMed
Journal: Am J Hum Genet; PubMed
Year: 1989; PubMed
Publication types: Journal Article, Research Support, Non-U.S. Gov't, Research Support, U.S. Gov't, P.H.S.; PubMed
PubMed: https://pubmed.ncbi.nlm.nih.gov/2568091/; PubMed
PMC: https://pmc.ncbi.nlm.nih.gov/articles/PMC1683367/; PubMed
The journal: https://conductscience.org/library/journal-index/0370475; PubMed
Citations, by iCite: 22; iCite
Relative citation ratio, by iCite: 0.65; iCite
Revised in PubMed: 2020-08-24; PubMed

Authors5

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

Order	Author	Forename
1	Francke U	U
2	Darras BT	B T
3	Hersh JH	J H
4	Berg BO	B O
5	Miller RG	R G

Source PubMed

Topics16

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

MeSH term	Major
Muscular Dystrophies	Major topic
Child
Child, Preschool
Chromosome Deletion
DNA
Dystrophin
Family
Female
Genes
Genes, Recessive
Humans
Male
Muscle Proteins
Pedigree
Polymorphism, Restriction Fragment Length
X Chromosome

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.

Trials0

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

None in this release.

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.

References41

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	5,637,795	Limb-girdle muscular dystrophy: clinical manifestations and detection of preclinical disease.	Pediatrics	1968	https://conductscience.org/library/papers/5637795	PubMed
2	14,296,923	MUSCULAR DYSTROPHY (DUCHENNE) IN A GIRL WITH TURNER'S SYNDROME.	J Med Genet	1965	https://conductscience.org/library/papers/14296923	PubMed
3	4,642,423	Four cases of Duchenne-type muscular dystrophy in girls.	Med J Aust	1972	https://conductscience.org/library/papers/4642423	PubMed
4	1,248,180	Autosomal recessive muscular dystrophy in Manitoba Hutterites.	Clin Genet	1976	https://conductscience.org/library/papers/1248180	PubMed
5	559,260	Failure of inactivation of Duchenne dystrophy X-chromosome in one of female identical twins.	Neurology	1977	https://conductscience.org/library/papers/559260	PubMed
6	7,217,994	Manifesting carrier of x-linked Duchenne muscular dystrophy.	J Neurol Sci	1981	https://conductscience.org/library/papers/7217994	PubMed
7	7,020,835	Clinical features and classification of the muscular dystrophies.	Br Med Bull	1980	https://conductscience.org/library/papers/7020835	PubMed
8	7,092,617	Progressive muscle disease in a young woman with family history of Duchenne's muscular dystrophy.	Arch Neurol	1982	https://conductscience.org/library/papers/7092617	PubMed
9	6,956,912	Isolation of a genomic clone partially encoding human hypoxanthine phosphoribosyltransferase.	Proc Natl Acad Sci U S A	1982	https://conductscience.org/library/papers/6956912	PubMed
10	6,832,497	Severe autosomal recessive muscular dystrophy in an extended Sudanese kindred.	Dev Med Child Neurol	1983	https://conductscience.org/library/papers/6832497	PubMed

1 to 10 of 41

See all 41 references

Cited by4

The papers in our copy of PubMed whose reference list names this one, newest first. iCite, which reads more sources, counts 22 citations.

PMID	Title	Journal	Year	In Papers	Source
38,895,972	A retrospective cohort study and review of the literature about germline mosaicism in Duchenne/Becker muscular dystrophy prenatal counseling: How to estimate the recurrence risk in clinical settings?	J Genet Couns	2025	https://conductscience.org/library/papers/38895972	PubMed
8,411,067	Integrated study of 100 patients with Xp21 linked muscular dystrophy using clinical, genetic, immunochemical, and histopathological data. Part 1. Trends across the clinical groups.	J Med Genet	1993	https://conductscience.org/library/papers/8411067	PubMed
2,277,383	Theoretical considerations on germline mosaicism in Duchenne muscular dystrophy.	J Med Genet	1990	https://conductscience.org/library/papers/2277383	PubMed
1,347,968	Common sequence motifs at the rearrangement sites of a constitutional X/autosome translocation and associated deletion.	Am J Hum Genet	1992	https://conductscience.org/library/papers/1347968	PubMed

Genes2

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	Source
DMD	1,756	PubTator's text mining	https://conductscience.org/library/genes/1756	NCBI Gene
HPRT1	3,251	PubTator's text mining	https://conductscience.org/library/genes/3251	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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