A new polymorphic probe which defines the region of chromosome 19 containing the myotonic dystrophy locus.

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Article

A new polymorphic probe which defines the region of chromosome 19 containing the myotonic dystrophy locus.

American journal of human genetics - 1 Jun 1990

Johnson K, Shelbourne P, Davies J, Buxton J, Nimmo E, Siciliano M J, Bachinski L L, Anvret M, Harley H, Rundle S

Abstract excerpt

The region of human chromosome 19 which includes the myotonic dystrophy locus (DM) has recently been redefined by the tight linkage between it and the gene for muscle-specific creatine kinase (CKMM), which lies just proximal to DM. Utilizing human/hamster hybrid cell lines containing defined brea...

Topics

Animals
Chromosome Mapping
Chromosomes, Human, Pair 19
Cosmids
Creatine Kinase
DNA Probes
Female
Genetic Linkage
Genetic Markers
Genotype
Haplotypes
Humans

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Hybrid Cells

Lod Score

Male

Muscles

Myotonic Dystrophy

Pedigree

Source

Open in PubMed Open full text

Identifiers

PMID: 1971149
PMCID: PMC1683833

Genes

ERCC1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-1971149-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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A new polymorphic probe which defines the region of chromosome 19 containing the myotonic dystrophy locus.PMID 1971149Read ↗

Physical and genetic characterization of the distal segment of the myotonic dystrophy area on 19q.Semantic proximity Read ↗

Detection of linkage disequilibrium between the myotonic dystrophy locus and a new polymorphic DNA marker.Semantic proximity Read ↗

Evidence for linkage of the central core disease locus to the proximal long arm of human chromosome 19.Semantic proximity Read ↗

A novel homeodomain-encoding gene is associated with a large CpG island interrupted by the myotonic dystrophy unstable (CTG)n repeatSemantic proximity Read ↗

X-linked myotubular myopathy: refinement of the gene to a 280-kb region with new and highly informative microsatellite markers.Semantic proximity Read ↗

Identification of variable simple sequence motifs in 19q13.2-qter: markers for the myotonic dystrophy locus.Semantic proximity Read ↗

High-resolution genetic and physical mapping of multiple epiphyseal dysplasia and pseudoachondroplasia mutations at chromosome 19p13.1-p12.Semantic proximity Read ↗

A three allele insertion polymorphism is identified by the human chromosome 19q13.3 probe pKBE0.8 (D19S119).Semantic proximity Read ↗

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The protein kinase N (PKN) gene PRKCL1/Prkcl1 maps to human chromosome 19p12-p13.1 and mouse chromosome 8 with close linkage to the myodystrophy (myd) mutation.Semantic proximity Read ↗

Detection of deletions spanning the Duchenne muscular dystrophy locus using a tightly linked DNA segment.Semantic proximity Read ↗

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