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Article

Targeted massively parallel sequencing and histological assessment of skeletal muscles for the molecular diagnosis of inherited muscle disorders.

Journal of medical genetics - 1 Feb 2017

Nishikawa Atsuko, Mitsuhashi Satomi, Miyata Naomasa, Nishino Ichizo

Abstract excerpt

BACKGROUND: Inherited skeletal muscle diseases are genetically heterogeneous diseases caused by mutations in more than 150 genes. This has made it challenging to establish a high-throughput screening method for identifying causative gene mutations in clinical practice. AIM: In the present study, we developed a useful method for screening gene mutations associated with the pathogenesis of skeletal muscle diseases....

Topics

Distal Myopathies
Exons
Female
High-Throughput Nucleotide Sequencing
High-Throughput Screening Assays
Humans
Male
Muscle, Skeletal
Muscular Diseases
Muscular Dystrophies

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Mutation

Myasthenic Syndromes, Congenital

Protein Aggregation, Pathological

Source

Identifiers

PMID: 27600705
DOI: 10.1136/jmedgenet-2016-104073

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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