Novel mutations in families with unusual and variable disorders of the skeletal muscle sodium channel

Nature Genetics

Volumn 2, Issue 2, 1992, Pages 148-152

  McClatchey, Andrea I ^a   McKenna Yasek, Diane ^a   Cros, Didier ^a   Worthen, Hilary G ^b   Kuncl, Ralph W ^c   Desilva, Shari M ^d   Cornblath, David R ^c   Gusella, James F ^a   Brown, Robert H ^a  

^a MASSACHUSETTS GENERAL HOSPITAL   (United States)

^b Cambridge City Hospital   (United States)

^c JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^d TEMPLE UNIVERSITY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

DNA;

ADULT; ARTICLE; CASE REPORT; FEMALE; GENETICS; HUMAN; MALE; METABOLISM; MOLECULAR GENETICS; MUSCLE DISEASE; NUCLEOTIDE SEQUENCE; PEDIGREE; PERIODIC PARALYSIS; PHENOTYPE; POINT MUTATION; SODIUM CHANNEL; THOMSEN DISEASE;

ADULT; BASE SEQUENCE; CASE REPORT; DNA; DNA MUTATIONAL ANALYSIS; FEMALE; HUMAN; MALE; MOLECULAR SEQUENCE DATA; MUSCULAR DISEASES; MYOTONIA CONGENITA; PARALYSES, FAMILIAL PERIODIC; PEDIGREE; PHENOTYPE; POINT MUTATION; SODIUM CHANNELS; SUPPORT, NON-U.S. GOV'T; SUPPORT, U.S. GOV'T, P.H.S.;

EID: 0026937757     PISSN: 10614036     EISSN: 15461718     Source Type: Journal    
DOI: 10.1038/ng1092-148     Document Type: Article

References (20)

1. Fontaine, B. et al. Hyperkalemic periodic paralysis and the adult muscle sodium channel alpha-subunit gene. Science 250, 1000-1002 (1990).
2. Koch, M. et al. Confirmation of linkage of hyperkaelemic periodic paralysis to chromosome 17. J. med. Genet. 28, 583-586 (1991).
3. Koch. M. et al. Linkage data suggesting allöür. heterogeneity for paramyotonia congenita and hyperkalemic periodic paralysis on chromosome 17. Hum. Genet. 88, 71-74(1991).
4. Ptacek, L. J., Tyler, F., Trimmer, J. S., Agnew, W. S. & Leppert, M. Analysis in a large hyperkalemlc periodic paralysis pedigree supports tight linkage to a sodium channel locus. Am. J. hum. Genet. 49, 378-382 (1991).
5. Ptacek, L. J. et al. Paramyotonia congenita and hyperkalemic periodic paratysis map to the same sodium-channøl gene locus Am. J. hum. Genet. 49, 851-854(1991).
6. Ebers, G. C. et al. Paramyotonia congenita and hyperkalemic periodic paralysis are linked to the adult muscle sodium channel gene. Ann. Neurol. 1, 810-816 (1991).
7. McClatchey, A. I. et al. Dinucleotide repeat polymorphisms at the SCN4A locus suggest allelic heterogeneity of hyperkalemic periodic paralysis and paramyotonia congenita. Am. J. hum. Genet. 50, 896-901 (1992).
8. Ptacek, L. J., Tawil, R., Griggs, R. C., Storvick, D. & Leppert, M. F. Linkage of atypical myotonia congenita to a sodium channel locus. Neurol. 42, 431-433 (1990).
9. McClatchey, A. I. et al. Temperature-sensitive mutations in the lll-IV cytoplasmic loop region of the skelet al muscle sodium channel gene in paramyotonia congenita. Cell, 68, 769-774 (1992).
10. Ptacek. L. J. et al. Mutations in an S4 segment of the adult skelet al muscle sodium channel cause paramyotonia congenita. Neuron 8, 891-897 (1992).
11. Rojas, C. V. et al. A met-to-val mutation in a skelet al muscle Na channel alpha-subunit in hyperkalemic periodic paralysis. Nature 354, 387-389 (1991).
12. Ptacek, L. J et al. Identification of a mutation in the genecausing hyperkalemic periodic paralysis. Cell 67, 1021-1027 (1991).
13. De Silva, S. M., Kuncl, R. W., Griffin, J. W., Cornblath, D R. & Chavoustie, S. Paramyotonia congenita or hyperkalemic periodic paralysis? Clinical and electrophysiological features of each entity in one family. Muscle Nerve 13, 21-26(1990).
14. Haimovich, B., Schotland, D. L., Fieles, W. E. & Barchi, R. L. Localization of sodium channel subtypes in adult rat skelet al muscle using channel-specific monoclonal antibodies. J. Neurosci. 7, 2957-2966 (1987).
15. Schotland, D. L. Fieles, W. E. & Barchi, R. L. Expression of sodium channel subtypes duhnq development in rat skelet al muscle. Muscle Nerve 14, 142-151 (1991).
16. Gillard, E. F. et al. A substitution of cysteine for arginine 614 in the ryanodine receptor is potentially causative of h uman malignant hyperthermia. Genomics 11, 751-755(1991).
17. Levitt, R. C. et al. Evidencefor genetic heterogeneity of malignant hyperthermia susceptibility Genomics 11, 543-547 (1991).
18. Deufel. T. et al. Evidence for genetic heterogeneity of malignant hyperthermia susceptibility. Am J. hum. Genet. 50, 1151-1161 (1992).
19. Seizmger, B. R., Martuza, R. L. ÃGusella, J. F. Loss of genes on chromosome 21 in tumorigenesis of human acoustic neuroma. Nature 322, 664-667 (1986).
20. George, A. L., Kormsarof, J., Kallen, R. G. & Barchi, R. L. Primary structure of the adult human skelet al muscle voltage-dependent sodium channel-Ann. Neurol. 31, 131-137 (1992).