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Alexandre S. Borges, José D. Barbosa, Luiz Antônio L. Resende, Lígia S

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Presentation on theme: "Alexandre S. Borges, José D. Barbosa, Luiz Antônio L. Resende, Lígia S"— Presentation transcript:

1 Clinical and molecular study of a new form of hereditary myotonia in Murrah water buffalo 
Alexandre S. Borges, José D. Barbosa, Luiz Antônio L. Resende, Lígia S.L.S. Mota, Rogério M. Amorim, Thaís L. Carvalho, José F. Garcia, José P. Oliveira-Filho, Carlos M.C. Oliveira, Jorge Estefano S. Souza, Nena J. Winand  Neuromuscular Disorders  Volume 23, Issue 3, Pages (March 2013) DOI: /j.nmd Copyright © 2012 Elsevier B.V. Terms and Conditions

2 Fig. 1 Startle response in an affected myotonic buffalo. Muscle stiffness was severe, and this animal exhibited recumbency after startle that lasted approximately 20–30s. Neuromuscular Disorders  , DOI: ( /j.nmd ) Copyright © 2012 Elsevier B.V. Terms and Conditions

3 Fig. 2 (A): Muscle hypertrophy in an adult male Murrah buffalo with a severe form of hereditary myotonia. (B): A clinically normal buffalo (on the left) for comparison of muscling with a myotonic buffalo (on the right). Neuromuscular Disorders  , DOI: ( /j.nmd ) Copyright © 2012 Elsevier B.V. Terms and Conditions

4 Fig. 3 (A) and (B): Characteristic myotonic discharges that wax and wane. (C) and (D): Positive–negative spikes (<5ms in duration) or monophasic positive waves on the electromyographical examination at rest. Neuromuscular Disorders  , DOI: ( /j.nmd ) Copyright © 2012 Elsevier B.V. Terms and Conditions

5 Fig. 4 Representation of the normal splicing process in wild type buffalo and aberrant splicing in myotonic animals. Neuromuscular Disorders  , DOI: ( /j.nmd ) Copyright © 2012 Elsevier B.V. Terms and Conditions

6 Supplementary Figure 1 Neuromuscular Disorders  , DOI: ( /j.nmd ) Copyright © 2012 Elsevier B.V. Terms and Conditions

7 Supplementary Figure 2 Neuromuscular Disorders  , DOI: ( /j.nmd ) Copyright © 2012 Elsevier B.V. Terms and Conditions

8 Supplementary Figure 3 Neuromuscular Disorders  , DOI: ( /j.nmd ) Copyright © 2012 Elsevier B.V. Terms and Conditions

9 Supplementary Table 1 Neuromuscular Disorders  , DOI: ( /j.nmd ) Copyright © 2012 Elsevier B.V. Terms and Conditions

10 Supplementary Table 2 Neuromuscular Disorders  , DOI: ( /j.nmd ) Copyright © 2012 Elsevier B.V. Terms and Conditions

11 Supplementary Table 3 Neuromuscular Disorders  , DOI: ( /j.nmd ) Copyright © 2012 Elsevier B.V. Terms and Conditions

12 Supplementary Table 4 Neuromuscular Disorders  , DOI: ( /j.nmd ) Copyright © 2012 Elsevier B.V. Terms and Conditions


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