Temperature-sensitive mutations in the III-IV cytoplasmic loop region of the skeletal muscle sodium channel gene in paramyotonia congenita.
Publication
, Journal Article
McClatchey, AI; Van den Bergh, P; Pericak-Vance, MA; Raskind, W; Verellen, C; McKenna-Yasek, D; Rao, K; Haines, JL; Bird, T; Brown, RH
Published in: Cell
February 21, 1992
Paramyotonia congenita (PMC), a dominant disorder featuring cold-induced myotonia (muscle stiffness), has recently been genetically linked to a candidate gene, the skeletal muscle sodium channel gene SCN4A. We have now established that SCN4A is the disease gene in PMC by identifying two different single-base coding sequence alterations in PMC families. Both mutations affect highly conserved residues in the III-IV cytoplasmic loop, a portion of the sodium channel thought to pivot in response to membrane depolarization, thereby blocking and inactivating the channel. Abnormal function of this cytoplasmic loop therefore appears to produce the Na+ current abnormality and the unique temperature-sensitive clinical phenotype in this disorder.
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Published In
Cell
DOI
ISSN
0092-8674
Publication Date
February 21, 1992
Volume
68
Issue
4
Start / End Page
769 / 774
Location
United States
Related Subject Headings
- Sodium Channels
- Sequence Alignment
- Pedigree
- Myotonia Congenita
- Muscle Proteins
- Molecular Sequence Data
- Models, Molecular
- Humans
- Developmental Biology
- Cold Temperature
Citation
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MLA
NLM
McClatchey, A. I., Van den Bergh, P., Pericak-Vance, M. A., Raskind, W., Verellen, C., McKenna-Yasek, D., … Brown, R. H. (1992). Temperature-sensitive mutations in the III-IV cytoplasmic loop region of the skeletal muscle sodium channel gene in paramyotonia congenita. Cell, 68(4), 769–774. https://doi.org/10.1016/0092-8674(92)90151-2
McClatchey, A. I., P. Van den Bergh, M. A. Pericak-Vance, W. Raskind, C. Verellen, D. McKenna-Yasek, K. Rao, J. L. Haines, T. Bird, and R. H. Brown. “Temperature-sensitive mutations in the III-IV cytoplasmic loop region of the skeletal muscle sodium channel gene in paramyotonia congenita.” Cell 68, no. 4 (February 21, 1992): 769–74. https://doi.org/10.1016/0092-8674(92)90151-2.
McClatchey AI, Van den Bergh P, Pericak-Vance MA, Raskind W, Verellen C, McKenna-Yasek D, et al. Temperature-sensitive mutations in the III-IV cytoplasmic loop region of the skeletal muscle sodium channel gene in paramyotonia congenita. Cell. 1992 Feb 21;68(4):769–74.
McClatchey, A. I., et al. “Temperature-sensitive mutations in the III-IV cytoplasmic loop region of the skeletal muscle sodium channel gene in paramyotonia congenita.” Cell, vol. 68, no. 4, Feb. 1992, pp. 769–74. Pubmed, doi:10.1016/0092-8674(92)90151-2.
McClatchey AI, Van den Bergh P, Pericak-Vance MA, Raskind W, Verellen C, McKenna-Yasek D, Rao K, Haines JL, Bird T, Brown RH. Temperature-sensitive mutations in the III-IV cytoplasmic loop region of the skeletal muscle sodium channel gene in paramyotonia congenita. Cell. 1992 Feb 21;68(4):769–774.
Published In
Cell
DOI
ISSN
0092-8674
Publication Date
February 21, 1992
Volume
68
Issue
4
Start / End Page
769 / 774
Location
United States
Related Subject Headings
- Sodium Channels
- Sequence Alignment
- Pedigree
- Myotonia Congenita
- Muscle Proteins
- Molecular Sequence Data
- Models, Molecular
- Humans
- Developmental Biology
- Cold Temperature