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Article

Association between centromeric deletions of the SMN gene and sporadic adult‐onset lower motor neuron disease

1 May 1998

Abstract excerpt

The telomeric copy (t) of the survival motor neuron (SMN) gene is homozygously deleted in more than 90% of patients with infantile motor neuron disease (MND). In the general population, no homozygous SMNt deletion has been found, whereas 5% of centromeric SMN (SMNc) deletions can be observed. Although SMNt deletions appear causal for infantile and at least some adult-onset spinal muscular atrophy (SMA) (type IV),...

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Identifiers

PMID: 9585359
DOI: 10.1002/ana.410430513

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Association between centromeric deletions of the SMN gene and sporadic adult‐onset lower motor neuron diseasePMID 9585359Read ↗

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Reduced survival of motor neuron (SMN) protein in motor neuronal progenitors functions cell autonomously to cause spinal muscular atrophy in model mice expressing the human centromeric (SMN2) gene.Semantic proximity Read ↗

Molecular analysis of SMN, NAIP and P44 genes of SMA patients and their families.Semantic proximity Read ↗

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Intragenic telSMN mutations: frequency, distribution, evidence of a founder effect, and modification of the spinal muscular atrophy phenotype by cenSMN copy number.Semantic proximity Read ↗

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