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Article

Fukutin mutations in congenital muscular dystrophies with defective glycosylation of dystroglycan in Korea.

Neuromuscular disorders : NMD - 1 Aug 2010

Lim Bung Chan, Ki Chang-Seok, Kim Jong-Won, Cho Anna, Kim Min Jung, Hwang Hee, Kim Ki Joong, Hwang Yong Seung, Park Woong Yang, Lim Yun-Jung, Kim In One, Lee Jun Su, Chae Jong Hee

Abstract excerpt

This study was aimed to identify Fukutin (FKTN)-related congenital muscular dystrophies (CMD) with defective alpha-dystroglycan glycosylation in Korea and to discuss their genotype-phenotype spectrum focusing on detailed brain magnetic resonance imaging (MRI) findings. FKTN mutations were found in nine of the 12 CMD patients with defective alpha-dystroglycan glycosylation patients (75%). Two patients were...

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

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Share to Mutagenesis, Insertional

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Source

Identifiers

PMID: 20620061
DOI: 10.1016/j.nmd.2010.06.005

Genes

FKTN

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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