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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 abnormaliti...

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Identifiers

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

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-15548501-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 1 Sept 2026.

Related research

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Phenotypic variability in siblings with type III spinal muscular atrophy.PMID 15548501Read ↗

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