Isolated eyelid closure myotonia in two families with sodium channel myotonia

Autor: J. Trip, Catharina G. Faber, H.B. Ginjaar, Gea Drost, B.G.M. van Engelen, Bas C. Stunnenberg
Přispěvatelé: MUMC+: MA Med Staf Spec Neurologie (9), Klinische Neurowetenschappen, RS: MHeNs School for Mental Health and Neuroscience
Jazyk: angličtina
Rok vydání: 2010
Předmět:
Male
Pediatrics
Genotype-phenotype correlation
Neurology
DNA Mutational Analysis
Na(v)1
4
Disease
Non-dystrophic myotonic syndromes Sodium channelopathies SCN4A Na(v)1
Sodium Channels
Na(v)1
Myotonia
Sodium channelopathies
Genetics(clinical)
NAV1.4 Voltage-Gated Sodium Channel
Genetics (clinical)
medicine.diagnostic_test
Genotype–phenotype correlation
4 Genotype-phenotype correlation nondystrophic myotonia mutation
Non-dystrophic myotonic syndromes Sodium channelopathies SCN4A Na(v)1
4 Genotype-phenotype correlation nondystrophic myotonia mutation
Middle Aged
Pedigree
medicine.anatomical_structure
Female
Functional Neurogenomics [DCN 2]
SCN4A
Adult
medicine.medical_specialty
Genetic counseling
Short Communication
Myotonic dystrophy
Cellular and Molecular Neuroscience
Young Adult
Non-dystrophic myotonic syndromes
medicine
Genetics
Humans
Genetic testing
Aged
Base Sequence
Nav1.4
business.industry
Dystrophy
Eyelids
medicine.disease
Mutation
Channelopathies
Eyelid
business
Zdroj: Neurogenetics
neurogenetics, 11(2), 257-260
Neurogenetics, 11, 2, pp. 257-60
Neurogenetics, 11, 257-60
Neurogenetics, 11(2), 257-260. Springer, Cham
ISSN: 1364-6745
Popis: Sodium channelopathies (NaCh), as part of the non-dystrophic myotonic syndromes (NDMs), reflect a heterogeneous group of clinical phenotypes accompanied by a generalized myotonia. Because of recent availability of diagnostic genetic testing in NDM, there is a need for identification of clear clinical genotype–phenotype correlations. This will enable clinicians to distinguish NDMs from myotonic dystrophy, thus allowing them to inform patients promptly about the disease, perform genetic counseling, and orient therapy (Vicart et al. Neurol Sci 26:194–202, 2005). We describe the first distinctive clinical genotype–phenotype correlation within NaCh: a strictly isolated eyelid closure myotonia associated with the L250P mutation in SCN4A. Using clinical assessment and needle EMG, we identified this genotype–phenotype correlation in six L250P patients from one NaCh family and confirmed this finding in another, unrelated NaCh family with three L250P patients. Electronic supplementary material The online version of this article (doi:10.1007/s10048-009-0225-x) contains supplementary material, which is available to authorized users.
Databáze: OpenAIRE
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