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Article

Mutation spectrum of the dystrophin gene in 442 Duchenne/Becker muscular dystrophy cases from one Japanese referral center.

Journal of human genetics - 1 Jun 2010

Takeshima Yasuhiro, Yagi Mariko, Okizuka Yo, Awano Hiroyuki, Zhang Zhujun, Yamauchi Yumiko, Nishio Hisahide, Matsuo Masafumi

Abstract excerpt

Recent developments in molecular therapies for Duchenne muscular dystrophy (DMD) demand accurate genetic diagnosis, because therapies are mutation specific. The KUCG (Kobe University Clinical Genetics) database for DMD and Becker muscular dystrophy is a hospital-based database comprising 442 cases. Using a combination of complementary DNA (cDNA) and chromosome analysis in addition to conventional genomic...

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Source

Identifiers

PMID: 20485447
DOI: 10.1038/jhg.2010.49

Genes

DMD

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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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