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

• Published in: Neuromuscular disorders : NMD Vol. 23; no. 3; pp. 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: Journal Article
• Language: English
• Published: England Elsevier B.V 01-03-2013
• 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; Chloride channel; Hereditary myotonia; Cryptic splicing; Water buffalo
• ISSN: 0960-8966; 1873-2364
• DOI: 10.1016/j.nmd.2012.11.008

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).