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Article

Diagnosis by sequencing: correction of misdiagnosis from FSHD2 to LGMD2A by whole-exome analysis.

European journal of human genetics : EJHG - 1 Sept 2012

Leidenroth Andreas, Sorte Hanne Sørmo, Gilfillan Gregor, Ehrlich Melanie, Lyle Robert, Hewitt Jane E

Abstract excerpt

We studied and validated facioscapulohumeral muscular dystrophy (FSHD) samples from patients without a D4Z4 contraction (FSHD2 or 'phenotypic FSHD'). For this, we developed non-radioactive protocols to test D4Z4 allele constitution and DNA methylation, and applied these to samples from the Coriel...

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Identifiers

PMID: 22378277
DOI: 10.1038/ejhg.2012.42
PMCID: PMC3421126

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CAPN3

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-22378277-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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