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

Highlights ► We described a new form of hereditary myotonia in water buffalo. ► Myotonic buffalo showed muscle hypertrophy, stiffness and myotonic discharges. ► The CLCN1 cDNA from myotonic buffalo lacked 43 nucleotides at the 3′-end of exon-3. ► This form of hereditary myotonia in buffalo was cause...

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Bibliographic Details
Published in:Neuromuscular disorders : NMD 2013-03, Vol.23 (3), p.206-213
Main Authors: 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
Format: Article
Language:English
Subjects:
Alleles
Amino acids
Animals
Buffaloes - genetics
Buffaloes - metabolism
Chloride channel
Chloride Channels - genetics
Chloride Channels - metabolism
Cryptic splicing
Electromyography
Exons
Female
Hereditary myotonia
Male
Muscle, Skeletal - metabolism
Muscle, Skeletal - pathology
Mutation
Myotonia Congenita - genetics
Myotonia Congenita - pathology
Myotonia Congenita - veterinary
Neurology
Pedigree
Polymorphism, Single Nucleotide
Water buffalo
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Summary:Highlights ► We described a new form of hereditary myotonia in water buffalo. ► Myotonic buffalo showed muscle hypertrophy, stiffness and myotonic discharges. ► The CLCN1 cDNA from myotonic buffalo lacked 43 nucleotides at the 3′-end of exon-3. ► This form of hereditary myotonia in buffalo was caused by CLCN1 aberrant splicing. ► The aberrant splicing was associated with the presence of a SNP in exon-3 (c.396C>T).
ISSN:0960-8966
1873-2364
DOI:10.1016/j.nmd.2012.11.008