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Article

Improved molecular diagnosis of facioscapulohumeral muscular dystrophy (FSHD): validation of the differential double digestion for FSHD.

Journal of medical genetics - 1 Jun 1997

Upadhyaya M, Maynard J, Rogers M T, Lunt P W, Jardine P, Ravine D, Harper P S

Abstract excerpt

A major advance in the molecular diagnosis of facioscapulohumeral muscular dystrophy is the recently reported elimination of confounding DNA fragments arising from homologous sequences located at 10q26. In order to evaluate the specificity and sensitivity of this important diagnostic test, we have compared a group of 130 patients fulfilling the diagnostic criteria for FSHD with 200 control subjects not known to...

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Identifiers

PMID: 9192267
DOI: 10.1136/jmg.34.6.476
PMCID: PMC1050970

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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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