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Article

A novel FKRP gene mutation in a Taiwanese patient with limb-girdle muscular dystrophy 2I.

Brain & development - 1 May 2007

Lin Yi-Ching, Murakami Terumi, Hayashi Yukiko K, Nishino Ichizo, Nonaka Ikuya, Yuo Chung-Yee, Jong Yuh-Jyh

Abstract excerpt

Limb-girdle muscular dystrophy (LGMD) is a group of hereditary muscle diseases with preferential involvement of the shoulder and pelvic girdle muscles, but with no pathognomonic features as in facioscapulohumeral and congenital muscular dystrophies. We report 18-year-old female with progressive s...

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Share to FKRP gene
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Muscular Dystrophies, Limb-Girdle

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Source

Identifiers

PMID: 17055682
DOI: 10.1016/j.braindev.2006.09.006

Genes

FKRP

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-17055682-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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