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- Title
Myotonia in DNM2-related centronuclear myopathy.
- Authors
Dabby, Ron; Sadeh, Menachem; Gilad, Ronit; Jurkat-Rott, Karin; Lehmann-Horn, Frank; Leshinsky-Silver, Esther
- Abstract
Centronuclear myopathy (CNM) is a rare hereditary myopathy characterized by centrally located muscle fiber nuclei. Mutations in the dynamin 2 ( DNM2) gene are estimated to account for about 50 % of CNM cases. Electromyographic recordings in CNM may show myopathic motor unit potentials without spontaneous activity at rest. Myotonic discharges, a distinctive electrical activity caused by membrane hyperexcitability, are characteristic of certain neuromuscular disorders. Such activity has been reported in only one CNM case without a known genetic cause. We sequenced the DNM2 gene and the genes associated with myotonia ( CLCN1, SCN4A, DMPK and ZNF9) in a sporadic adult patient with CNM and myotonic discharges. Sequencing the entire coding region and exon-intron boundaries revealed a heterozygous c.1106g-a substitution in exon 8, resulting in a R369Q change in the DNM2. Sequencing the CLCN1, SCN4A, DMPK and ZNF9 genes ruled out mutations in these genes. This is the first report of DNM2-related CNM presenting with myotonia. The diagnosis of CNM should be considered in patients with myotonic discharges of an unknown cause.
- Subjects
MYOTONIA; MUSCLE diseases; GENETIC mutation; DYNAMIN (Genetics); ELECTROMYOGRAPHY; NUCLEOTIDE sequencing
- Publication
Journal of Neural Transmission, 2014, Vol 121, Issue 5, p549
- ISSN
0300-9564
- Publication type
Article
- DOI
10.1007/s00702-013-1140-8