Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Fine mapping of a distinctive autosomal dominant vacuolar neuromyopathy using 11 novel microsatellite markers from chromosome band 19p13.3.

European journal of human genetics : EJHG - 1 Oct 2000

Sangiuolo F, Bruscia E, Capon F, Servidei S, Dallapiccola B, Novelli G

Abstract excerpt

We previously mapped a distinctive autosomal dominant vacuolar neuromyopathy on human chromosome 19p13 in an 8cM region, delimited by D19S209 and D19S177 markers. We now report the fine mapping of the disease locus within an interval of 250 Kb by haplotype analysis performed using a set of 11 novel microsatellite markers isolated from the candidate region.

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Chromosomes, Human, Pair 19
Share to DNA Primers
Share to Genes, Dominant

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Lod Score

Share to Microsatellite Repeats

Share to Muscles

Share to Neuromuscular Diseases

Share to Physical Chromosome Mapping

Source

Identifiers

PMID: 11039585
DOI: 10.1038/sj.ejhg.5200547

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Fine mapping of a distinctive autosomal dominant vacuolar neuromyopathy using 11 novel microsatellite markers from chromosome band 19p13.3.PMID 11039585Read ↗

Interstitial 22q13 deletions not involving SHANK3 gene: a new contiguous gene syndrome.Semantic proximity Read ↗

A new type of hereditary motor and sensory neuropathy linked to chromosome 3Semantic proximity Read ↗

A physical and transcript map of the MCOLN1 gene region on human chromosome 19p13.3-p13.2.Semantic proximity Read ↗

Precise genetic mapping and haplotype analysis of the familial dysautonomia gene on human chromosome 9q31.Semantic proximity Read ↗

Refinement of a locus for Marie Unna hereditary hypotrichosis to a 1.1-cM interval at 8p21.3.Semantic proximity Read ↗

Homozygosity and linkage disequilibrium mapping of autosomal recessive distal myopathy (Nonaka distal myopathy).Semantic proximity Read ↗

An autosomal dominant ataxia maps to 19q13: Allelic heterogeneity of SCA13 or novel locus?Semantic proximity Read ↗

Welander distal myopathy outside the Swedish population: phenotype and genotype.Semantic proximity Read ↗

A new episodic ataxia syndrome with linkage to chromosome 19q13.Semantic proximity Read ↗

The gene for hereditary sensory neuropathy type I (HSN-I) maps to chromosome 9q22.1-q22.3.Semantic proximity Read ↗

Mapping of the von Hippel-Lindau disease locus to a small region of chromosome 3p by genetic linkage analysis.Semantic proximity Read ↗

Assignment of a locus for dominantly inherited venous malformations to chromosome 9pSemantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.