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Article

Importance and challenge of making an early diagnosis in LMNA-related muscular dystrophy.

Neurology - 17 Apr 2012

Menezes M P, Waddell L B, Evesson F J, Cooper S, Webster R, Jones K, Mowat D, Kiernan M C, Johnston H M, Corbett A, Harbord M, North K N, Clarke N F

Abstract excerpt

OBJECTIVE: To identify the most useful clinical and histologic markers that facilitate early diagnosis in LMNA-related muscular dystrophy and to assess the usefulness of Western blotting (WB) for lamin A/C. METHODS: We analyzed the clinical and histologic features and WB results of all patients with laminopathies diagnosed in a research-based diagnostic service over 8 years. RESULTS: Although patients with...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Muscular Dystrophy, Emery-Dreifuss

Source

Identifiers

PMID: 22491857
DOI: 10.1212/WNL.0b013e318250d839

Genes

LMNA

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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