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Article

Spinal muscular atrophy: molecular genetics and diagnostics.

Expert review of molecular diagnostics - 1 Jan 2004

Ogino Shuji, Wilson Robert B

Abstract excerpt

Spinal muscular atrophy is one of the most common autosomal recessive diseases, affecting approximately one in 10,000 live births and with a carrier frequency of approximately one in 50. Spinal muscular atrophy is caused by a deficiency of the ubiquitous protein survival of motor neuron (SMN), which is encoded by the SMN genes, SMN1 and SMN2. Due to a single nucleotide polymorphism (840C>T), SMN2 produces less...

Topics

Animals
Cyclic AMP Response Element-Binding Protein
Genetic Counseling
Genetic Testing
Humans
Muscular Atrophy, Spinal
Mutation
Nerve Tissue Proteins
RNA-Binding Proteins
SMN Complex Proteins
Survival of Motor Neuron 1 Protein

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Survival of Motor Neuron 2 Protein

Source

Identifiers

PMID: 14711346
DOI: 10.1586/14737159.4.1.15

Genes

SMN1
SMN2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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