Abstract | INTRODUCTION: CLINICAL CASE: We describe a case of generalized myotonia in a Peruvian young male, descending of Europeans, without familial history. CONCLUSIONS: We discuss his clinical symptoms, laboratory and electrophysiologic findings, differential diagnosis, and response to the treatment with carbamazepine. We report the first case of Becker's myotonia in Peru.
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Authors | L Torres, M Vélez, C Cosentino |
Journal | Revista de neurologia
(Rev Neurol)
2000 Jun 1-15
Vol. 30
Issue 11
Pg. 1033-6
ISSN: 0210-0010 [Print] Spain |
Vernacular Title | Miotonía de Becker en Perú. |
PMID | 10904948
(Publication Type: Case Reports, English Abstract, Journal Article)
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Chemical References |
- Analgesics, Non-Narcotic
- Carbamazepine
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Topics |
- Adolescent
- Alleles
- Analgesics, Non-Narcotic
(therapeutic use)
- Carbamazepine
(therapeutic use)
- Chromosomes, Human, Pair 7
(genetics)
- Diagnosis, Differential
- Electromyography
(methods)
- Humans
- Hypertrophy
(pathology)
- Male
- Muscle, Skeletal
(pathology)
- Myotonia Congenita
(diagnosis, drug therapy, genetics)
- Pedigree
- Peru
- Point Mutation
(genetics)
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