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Article

Broad spectrum of phenotype and genotype in Korean α-dystroglycan related muscular dystrophy presenting to a tertiary pediatric neuromuscular center.

Neuromuscular disorders : NMD - 1 May 2023

Ko Young Jun, Cho Anna, Kim Woo Joong, Kim Soo Yeon, Lim Byung Chan, Kim Hunmin, Hwang Hee, Choi Ji Eun, Kim Ki Joong, Chae Jong-Hee

Abstract excerpt

α-Dystroglycanopathies are a clinically and genetically heterogeneous group of muscular dystrophies associated with the defective glycosylation of α-dystroglycan (α-DG). Eighteen genes associated with α-dystroglycanopathies have been identified, and the relative prevalence of genetic subtypes varies with ethnicity. Here, we investigated the clinical and genetic characteristics of α-DG-related muscular dystrophy...

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Identifiers

PMID: 37087885
DOI: 10.1016/j.nmd.2023.03.009

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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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