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Article

Correlations between clinical severity, genotype and muscle pathology in limb girdle muscular dystrophy type 2A.

Journal of medical genetics - 1 Oct 2007

Fanin M, Nardetto L, Nascimbeni A C, Tasca E, Spinazzi M, Padoan R, Angelini C

Abstract excerpt

BACKGROUND: Limb girdle muscular dystrophy type 2A (LGMD2A) is characterised by wide variability in clinical features and rate of progression. Patients with two null mutations usually have a rapid course, but in the remaining cases (two missense mutations or compound heterozygote mutations) prognosis is uncertain. METHODS: We conducted what is to our knowledge the first systematic histopathological, biochemical...

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Identifiers

PMID: 17526799
DOI: 10.1136/jmg.2007.050328
PMCID: PMC2597960

Provenance

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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