Targeted next-generation sequencing for the genetic diagnosis of dysferlinopathy

Highlights • DYSF gene analysis is time-consuming and laborious by conventional sequencing method. • We set up a next-generation sequencing-based screening method for dysferlinopathy. • This method is accurate and efficient for genetic diagnosis of dysferlinopathy.

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Bibliographic Details
Published in:Neuromuscular disorders : NMD 2015-06, Vol.25 (6), p.502-510
Main Authors: Shin, Ha Young, Jang, Hoon, Han, Joo Hyung, Park, Hyung Jun, Lee, Jung Hwan, Kim, So Won, Kim, Seung Min, Park, Young-Eun, Kim, Dae-Seong, Bang, Duhee, Lee, Min Goo, Lee, Ji Hyun, Choi, Young-Chul
Format: Article
Language:English
Subjects:
Adolescent
Adult
Child
DNA Mutational Analysis
DYSF
Dysferlin
Dysferlinopathy
Female
High-Throughput Nucleotide Sequencing
Humans
Hybridization capture
Male
Membrane Proteins - genetics
Muscle Proteins - genetics
Muscular Dystrophies, Limb-Girdle - diagnosis
Muscular Dystrophies, Limb-Girdle - genetics
Mutation
Neurology
Next-generation sequencing
Young Adult
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Description
Summary:Highlights • DYSF gene analysis is time-consuming and laborious by conventional sequencing method. • We set up a next-generation sequencing-based screening method for dysferlinopathy. • This method is accurate and efficient for genetic diagnosis of dysferlinopathy.
ISSN:0960-8966
1873-2364
DOI:10.1016/j.nmd.2015.03.006