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Article

Clinical and molecular study of a new form of hereditary myotonia in Murrah water buffalo.

Neuromuscular disorders : NMD - 1 Mar 2013

Borges Alexandre S, Barbosa José D, Resende Luiz Antônio L, Mota Lígia S L S, Amorim Rogério M, Carvalho Thaís L, Garcia José F, Oliveira-Filho José P, Oliveira Carlos M C, Souza Jorge Estefano S, Winand Nena J

Abstract excerpt

Hereditary myotonia caused by mutations in CLCN1 has been previously described in humans, goats, dogs, mice and horses. The goal of this study was to characterize the clinical, morphological and genetic features of hereditary myotonia in Murrah buffalo. Clinical and laboratory evaluations were pe...

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Source

Identifiers

PMID: 23339992
DOI: 10.1016/j.nmd.2012.11.008

Genes

CLCN1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-23339992-2026-09-04.1. Manifest publication-graph-cohort-2026-09-04.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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