| Full text | |
| Author(s): Show less - |
Borges, Alexandre S.
[1]
;
Barbosa, Jose D.
[2]
;
Resende, Luiz Antonio L.
[3]
;
Mota, Ligia S. L. S.
[4]
;
Amorim, Rogerio M.
[1]
;
Carvalho, Thais L.
[4]
;
Garcia, Jose F.
[5]
;
Oliveira-Filho, Jose P.
[1]
;
Oliveira, Carlos M. C.
[2]
;
Souza, Jorge Estefano S.
[6]
;
Winand, Nena J.
[7]
Total Authors: 11
|
| Affiliation: | [1] Univ Estadual Paulista, UNESP, Coll Vet Med & Anim Sci, Dept Vet Clin Sci, BR-18618970 Botucatu, SP - Brazil
[2] Fed Univ Para, Fac Vet, Castanhal - Brazil
[3] Univ Estadual Paulista, UNESP, Fac Med, Dept Neurol, BR-18618970 Botucatu, SP - Brazil
[4] Univ Estadual Paulista, UNESP, Biosci Inst, Dept Genet, BR-18618970 Botucatu, SP - Brazil
[5] Univ Estadual Paulista, UNESP, Dept Apoio Prod & Saude Anim, Aracatuba - Brazil
[6] Bioinformat J2ss Informat Ltda ME Sao Paulo, Sao Paulo - Brazil
[7] Cornell Univ, Dept Mol Med, Ithaca, NY - USA
Total Affiliations: 7
|
| Document type: | Journal article |
| Source: | Neuromuscular Disorders; v. 23, n. 3, p. 206-213, MAR 2013. |
| Web of Science Citations: | 6 |
| Abstract | |
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 performed on affected and normal animals. CLCN1 cDNA and the relevant genomic region from normal and affected animals were sequenced. The affected animals exhibited muscle hypertrophy and stiffness. Myotonic discharges were observed during EMG, and dystrophic changes were not present in skeletal muscle biopsies; the last 43 nucleotides of exon-3 of the CLCN1 mRNA were deleted. Cloning of the genomic fragment revealed that the exclusion of this exonic sequence was caused by aberrant splicing, which was associated with the presence of a synonymous SNP in exon-3 (c.396C>T). The mutant allele triggered the efficient use of an ectopic 5' splice donor site located at nucleotides 90-91 of exon-3. The predicted impact of this aberrant splicing event is the alteration of the CLCN1 translational reading frame, which results in the incorporation of 24 unrelated amino acids followed by a premature stop codon. (C) 2012 Elsevier B.V. All rights reserved. (AU) | |