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Distal myopathy with ADSSL1 mutations in Korean patients.

Neuromuscular disorders : NMD - 1 May 2017

Park Hyung Jun, Shin Ha Young, Kim Sungjun, Kim Se Hoon, Lee Yunbeom, Lee Jung Hwan, Hong Ji-Man, Kim Seung Min, Park Kee Duk, Choi Byung-Ok, Lee Ji Hyun, Choi Young-Chul

Abstract excerpt

To understand the characteristics of ADSSL1 myopathy, we investigated the clinical manifestation in Korean patients with ADSSL1 mutations. We developed a targeted panel of 16 distal-myopathy genes and recruited a total of 12 patients with genetically undetermined distal myopathy. We found four (33%) with ADSSL1 mutations and one (8%) with GNE mutations. ADSSL1 mutations consisted of c.910G>A, c.1048delA and...

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Source

Identifiers

PMID: 28268051
DOI: 10.1016/j.nmd.2017.02.004

Genes

GNE

Variants

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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