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Article

Phenotypic variability in siblings with type III spinal muscular atrophy.

Journal of neurology, neurosurgery, and psychiatry - 1 Dec 2004

Muqit M M K, Moss J, Sewry C, Lane R J M

Abstract excerpt

Autosomal recessive spinal muscular atrophy (SMA) shows substantial phenotypic variability, presenting at a variety of ages from infancy to adult life. Diagnostic difficulties may arise because SMA sometimes produces a dystrophic or myopathic phenotype rather than classical neurogenic abnormalities. Two brothers are described who illustrate this principle and highlight the increasing importance of molecular...

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Identifiers

PMID: 15548501
DOI: 10.1136/jnnp.2003.018614
PMCID: PMC1738872

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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.

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