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Article

[Detection of micro mutation in dystrophin gene of DMD female carrier].

Rinsho byori. The Japanese journal of clinical pathology - 1 Jun 2004

Miyamoto Akitoshi, Taguchi Kazumi, Hieda Soutaro, Kawamura Mitsuru, Fukuchi Kunihiko, Gomi Kunihide

Abstract excerpt

We attempted to identify a mutation in dystrophin gene in a female patient who was suspected a Duchenne muscular dystrophy (DMD) carrier with muscle weakness of upper limbs and congestive heart failure. We examined the mutation hot spots in DMD gene, exon 3, 6, 8, 13, 17, 19, 43, 44, 45, 47, 48, 49, 50, 52, 60 by multiplex PCR which had been a diagnostic screening strategy, and detected an extra band in exon 43...

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Source

Identifiers

PMID: 15283161

Genes

DMD

Provenance

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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