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Article

Targeted Next Generation Sequencing in patients with Myotonia Congenita.

Clinica chimica acta; international journal of clinical chemistry - 1 Jul 2017

Ferradini Valentina, Cassone Marco, Nuovo Sara, Bagni Ilaria, D'Apice Maria Rosaria, Botta Annalisa, Novelli Giuseppe, Sangiuolo Federica

Abstract excerpt

INTRODUCTION: Myotonia Congenita (MC) is a nondystrophic skeletal muscle disease characterized by muscle stiffness, weakness, delayed skeletal relaxation and hypertrophic muscle. The disease can be inherited as dominant or recessive. More than 130 mutations in CLCN1 gene have been identified. MATERIALS AND METHODS: We analyzed the entire coding region and exon-intron boundaries of the CLCN1 gene in 40 MC...

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Source

Identifiers

PMID: 28427807
DOI: 10.1016/j.cca.2017.04.012

Genes

CLCN1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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