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

A gene for a severe lethal form of X-linked arthrogryposis (X-linked infantile spinal muscular atrophy) maps to human chromosome Xp11.3-q11.2

1 Jul 1995

Abstract excerpt

X-linked arthrogryposis Type I (X-linked infantile spinal muscular atrophy) is a rare disorder showing hypotonia, areflexia, and multiple congenital contractures (arthrogryposis) associated with loss of anterior horn cells and death in infancy. We have studied an X-linked arthrogryposis family using highly polymorphic microsatellite markers throughout the X chromosome. Meiotic breakpoint analysis (concordance...

Read the complete abstract on PubMed

Topics

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

Share to Genetics and Neurodevelopmental Disorders
Share to Neurogenetic and Muscular Disorders Research
Share to RNA modifications and cancer

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

Source

Identifiers

PMID: 8528211
DOI: 10.1093/hmg/4.7.1213

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.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A gene for a severe lethal form of X-linked arthrogryposis (X-linked infantile spinal muscular atrophy) maps to human chromosome Xp11.3-q11.2PMID 8528211Read ↗

Newly described form of X-linked arthrogryposis maps to the long arm of the human X chromosome.Semantic proximity Read ↗

X-linked nonprogressive congenital cerebellar hypoplasia: clinical description and mapping to chromosome Xq.Semantic proximity Read ↗

Confirmation of linkage in X-linked infantile spasms (West syndrome) and refinement of the disease locus to Xp21.3-Xp22.1.Semantic proximity Read ↗

Novel syndromic form of X-linked complicated spastic paraplegiaSemantic proximity Read ↗

Review of X-linked syndromes with arthrogryposis or early contractures-aid to diagnosis and pathway identification.Semantic proximity Read ↗

The recognition and investigation of X-linked learning disability syndromes.Semantic proximity Read ↗

X-linked congenital ataxia: a new locus maps to Xq25-q27.1.Semantic proximity Read ↗

X-linked congenital ataxia: a clinical and genetic study.Semantic proximity Read ↗

A gene for distal arthrogryposis type I maps to the pericentromeric region of chromosome 9.Semantic proximity Read ↗

Severe nonspecific X-linked mental retardation caused by a proximally Xp located gene: intragenic heterogeneity or a new form of X-linked mental retardation?Semantic proximity Read ↗

Fine mapping of the human SCIDX1 locus at Xq12-13.1.Semantic proximity Read ↗

Lethal Arthrogryposis in Finland - A Clinico-Pathological Study of 83 Cases During Thirteen YearsSemantic proximity Read ↗

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