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Article

Distinguishing the 4qA and 4qB variants is essential for the diagnosis of facioscapulohumeral muscular dystrophy in the Chinese population.

European journal of human genetics : EJHG - 1 Jan 2011

Wang Zhi-Qiang, Wang Ning, van der Maarel Silvere, Murong Shen-Xing, Wu Zhi-Ying

Abstract excerpt

Facioscapulohumeral muscular dystrophy (FSHD) is the third most common inherited muscular dystrophy with markedly clinical variability and complex genetic cause. Several reports pertaining to the Caucasian population have confirmed that there are 4qA and 4qB variants of the 4qter subtelomere, and FSHD is uniquely associated with the 4qA variant. However, few data relevant to the Chinese population have been...

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Identifiers

PMID: 20736973
DOI: 10.1038/ejhg.2010.143
PMCID: PMC3039510

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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