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Article

A simplified approach for FSHD molecular testing.

Clinica chimica acta; international journal of clinical chemistry - 15 Feb 2014

Papanikos Frantzeskos, Skoulatou Christina, Sakellariou Paraskevi, Kekou Kyriaki, Christopoulos Theodore K, Kanavakis Emmanuel, Traeger-Synodinos Jan, Ioannou Penelope C

Abstract excerpt

BACKGROUND: Facioscapulohumeral muscular dystrophy (FSHD) is characterized by complex genetics linked to DNA rearrangements in a polymorphic genomic region of tandemly repeated D4Z4 segments. A panel of FSHD biomarkers including contracted D4Z4 array repeat combined with the 4qA(159/161/168)PAS haplotype has been proposed as molecular signature for defining alleles causally related to FSHD. The aim of the present...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 24321734
DOI: 10.1016/j.cca.2013.11.032

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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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