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Article

Elucidation of the Genetic Cause in Dutch Limb Girdle Muscular Dystrophy Families: A 27-Year's Journey.

Journal of neuromuscular diseases - 1 Jan 2021

Ten Dam L, de Visser M, Ginjaar Ieke B, van Duyvenvoorde Hermine A, van Koningsbruggen Silvana, van der Kooi Anneke J

Abstract excerpt

BACKGROUND: A Dutch cohort of 105 carefully selected limb girdle muscular dystrophy (LGMD) patients from 68 families has been subject to genetic testing over the last 20 years. After subsequent targeted gene analysis around two thirds (45/68) of the families had received a genetic diagnosis in 2013. OBJECTIVE: To describe the results of further genetic testing in the remaining undiagnosed limb girdle muscular...

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Identifiers

PMID: 33386810
DOI: 10.3233/JND-200585
PMCID: PMC9789482

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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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