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Article

Utilisation of exome sequencing for muscular disorders in Thai paediatric patients: diagnostic yield and mutational spectrum.

Scientific reports - 25 Jan 2023

Summa Sarinya, Ittiwut Chupong, Kulsirichawaroj Pimchanok, Paprad Tanitnun, Likasitwattanakul Surachai, Sanmaneechai Oranee, Boonsimma Ponghatai, Suphapeetiporn Kanya, Shotelersuk Vorasuk

Abstract excerpt

Muscular dystrophies and congenital myopathies are heterogeneous groups of inherited muscular disorders. An accurate diagnosis is challenging due to their complex clinical presentations and genetic heterogeneity. This study aimed to determine the utilisation of exome sequencing (ES) for Thai paediatric patients with muscular disorders. Of 176 paediatric patients suspected of genetic/inherited myopathies, 133...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 36697461
DOI: 10.1038/s41598-023-28405-6
PMCID: PMC9876991

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