Validation of genetic modifiers for Duchenne muscular dystrophy: a multicentre study assessing SPP1 and LTBP4 variants.

doi:10.1136/jnnp-2014-308409

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Article

Validation of genetic modifiers for Duchenne muscular dystrophy: a multicentre study assessing SPP1 and LTBP4 variants.

Journal of neurology, neurosurgery, and psychiatry - 1 Oct 2015

van den Bergen Janneke C, Hiller Monika, Böhringer Stefan, Vijfhuizen Linda, Ginjaar Hendrika B, Chaouch Amina, Bushby Kate, Straub Volker, Scoto Mariacristina, Cirak Sebahattin, Humbertclaude Véronique, Claustres Mireille, Scotton Chiara, Passarelli Chiara, Lochmüller Hanns, Muntoni Francesco, Tuffery-Giraud Sylvie, Ferlini Alessandra, Aartsma-Rus Annemieke M, Verschuuren Jan J G M, 't Hoen Peter Ac, Spitali Pietro

Abstract excerpt

OBJECTIVE: Duchenne muscular dystrophy (DMD) is characterised by progressive muscle weakness. It has recently been reported that single nucleotide polymorphisms (SNPs) located in the SPP1 and LTBP4 loci can account for some of the inter-individual variability observed in the clinical disease course. The validation of genetic association in large independent cohorts is a key process for rare diseases in order to...

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Identifiers

PMID: 25476005
DOI: 10.1136/jnnp-2014-308409
PMCID: PMC4602257

Genes

LTBP4
SPP1
DMD

Provenance

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Source receipt: pubmed, retrieved 7 Sept 2026.

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