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Article

A novel SYNE2 mutation identified by whole exome sequencing in a Korean family with Emery-Dreifuss muscular dystrophy.

Clinica chimica acta; international journal of clinical chemistry - 1 Jul 2020

Lee Sook Joung, Lee Sangjee, Choi Eunseok, Shin Soyoung, Park Joonhong

Abstract excerpt

INTRODUCTION: Emery-Dreifuss muscular dystrophy (EDMD) also known as humeroperoneal muscular dystrophy, is a skeletal myopathy characterized by the clinical triad of progressive muscular weakness, joint contractures, and cardiac disease. METHODOLOGY: Herein, we reported a family including two patients (the proband and his son) affected with progressive muscular dystrophy manifested by joint contractures without...

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Identifiers

PMID: 32184094
DOI: 10.1016/j.cca.2020.03.021

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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