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Article

Analysis of the UK diagnostic strategy for limb girdle muscular dystrophy 2A.

Brain : a journal of neurology - 1 Dec 2007

Groen Emma J, Charlton Richard, Barresi Rita, Anderson Louise V, Eagle Michelle, Hudson Judith, Koref Mauro Santibanez, Straub Volker, Bushby Katharine M D

Abstract excerpt

Diagnosis of limb girdle muscular dystrophy type 2A can be complex due to phenotypic variability, lack of precision of protein analysis in muscle biopsies, and absence of mutational hot spots in the CAPN3 gene. The aim of this study was to review clinical and biopsy data from a group of patients with known CAPN3 genetic status to validate and refine our current diagnostic strategy, which combines clinical...

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Source

Identifiers

PMID: 18055493
DOI: 10.1093/brain/awm259

Genes

CAPN3

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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