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Article

A novel mutation in DNAJB6, p.(Phe91Leu), in childhood-onset LGMD1D with a severe phenotype.

Neuromuscular disorders : NMD - 1 Nov 2015

Nam Tai-Seung, Li Wenting, Heo Suk-Hee, Lee Kyung-Hwa, Cho Anna, Shin Jin-Hong, Kim Young Ok, Chae Jong-Hee, Kim Dae-Seong, Kim Myeong-Kyu, Choi Seok-Yong

Abstract excerpt

To identify and characterize genetic mutation in a Korean family with limb-girdle muscular dystrophy 1 (LGMD1), we analyzed in the affected family members clinical features, DNAJB6 by Sanger sequencing, muscle structures by magnetic resonance imaging (MRI), and functional consequences of the identified mutation using a zebrafish model. The clinical phenotypes along with identification of a novel c.271T > C...

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Source

Identifiers

PMID: 26371419
DOI: 10.1016/j.nmd.2015.08.002

Genes

DNAJB6

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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