• Michael J Lyons, Reyna Duron, Isaac Molinero, Federica Sangiuolo, and Kenton R Holden.
• Greenwood Genetic Center, Greenwood, South Carolina 29418, USA. mlyons@ggc.org
• Pediatr. Neurol. 2010 May 1; 42 (5): 365-8.

AbstractMyotonia congenita is a nondystrophic muscle disorder characterized by muscle stiffness and muscle hypertrophy. The disorder can be inherited in an autosomal-dominant (Thomsen disease) or autosomal-recessive (Becker disease) manner. Both forms of myotonia congenita are attributable to mutations in the CLCN1 gene. Treatment with a variety of medications has led to long-term improvement in the clinical course of affected individuals. We describe a Honduran boy with myotonia congenita and a novel p.L287I mutation in the CLCN1 gene. The patient's unaffected father carries the same mutation, most likely reflecting autosomal-recessive myotonia congenita, with an inability to find a second mutation. The patient received carbamazepine treatment for 1 year, resulting in decreased muscle stiffness, increased strength, and improved quality of life in school and with peers.Copyright 2010 Elsevier Inc. All rights reserved.

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