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Article

Maternal mosaicism for a second mutational event in a type I spinal muscular atrophy family.

American journal of human genetics - 1 Jul 1998

Campbell L, Daniels R J, Dubowitz V, Davies K E

Abstract excerpt

Spinal muscular atrophy (SMA) is a common fatal motor-neuron disorder characterized by degeneration of the anterior horn cells of the spinal cord, which results in proximal muscle weakness. Three forms of the disease, exhibiting differing phenotypic severity, map to chromosome 5q13 in a region of unusually high genomic variability. The SMA-determining gene (SMN) is deleted or rearranged in patients with SMA of...

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

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Identifiers

PMID: 9634516
DOI: 10.1086/301918
PMCID: PMC1377239

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Source receipt: pubmed, retrieved 7 Sept 2026.

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