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Article

A novel cDNA detects homozygous microdeletions in greater than 50% of type I spinal muscular atrophy patients.

Nature genetics - 1 Jan 1995

Thompson T G, DiDonato C J, Simard L R, Ingraham S E, Burghes A H, Crawford T O, Rochette C, Mendell J R, Wasmuth J J

Abstract excerpt

Spinal muscular atrophy (SMA) is the second most common lethal, autosomal recessive disease in Caucasians (after cystic fibrosis). Childhood SMAs are divided into three groups (type I, II and III), which are allelic variants of the same locus in a region of approximately 850 kb in chromosome 5q12-q13, containing multiple copies of a novel, chromosome 5-specific repeat as well as many atypical pseudogenes. This...

Topics

Base Sequence
Chromosome Mapping
Chromosomes, Human, Pair 5
DNA, Complementary
Exons
Homozygote
Humans
Molecular Sequence Data
Muscular Atrophy, Spinal
Phenotype
Repetitive Sequences, Nucleic Acid

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Sequence Deletion

Transcription, Genetic

Source

Identifiers

PMID: 7704025
DOI: 10.1038/ng0195-56

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-7704025-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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A novel cDNA detects homozygous microdeletions in greater than 50% of type I spinal muscular atrophy patients.PMID 7704025Read ↗

Deletion analysis of the simple tandem repeat loci physically linked to the spinal muscular atrophy locus.Semantic proximity Read ↗

Spinal muscular atrophy due to a "de novo" 1.3 Mb deletion: implication for genetic counseling.Semantic proximity Read ↗

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Two 5q13 simple tandem repeat loci are in linkage disequilibrium with type 1 spinal muscular atrophy.Semantic proximity Read ↗

An 11 base pair duplication in exon 6 of the SMN gene produces a type I spinal muscular atrophy (SMA) phenotype: further evidence for SMN as the primary SMA-determining gene.Semantic proximity Read ↗

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