PMID- 10369308
OWN - NLM
STAT- MEDLINE
DCOM- 19990629
LR  - 20190717
IS  - 0003-9942 (Print)
IS  - 0003-9942 (Linking)
VI  - 56
IP  - 6
DP  - 1999 Jun
TI  - A novel mutation in the gene for the adult skeletal muscle sodium channel
      alpha-subunit (SCN4A) that causes paramyotonia congenita of von Eulenburg.
PG  - 692-6
AB  - BACKGROUND: Paramyotonia congenita (PMC) of von Eulenburg is an autosomal
      dominant muscular disease characterized by exercise- and cold-induced myotonia
      and weakness. To date, 18 missense mutations in the adult skeletal muscle sodium 
      channel alpha-subunit (SCN4A) gene have been identified to cause a spectrum of
      muscular diseases, including PMC of von Eulenburg, PMC without cold paralysis,
      potassium-aggravating myotonia, and hyperkalemic periodic paralysis. However, no 
      obvious correlations can be made between the location or nature of amino acid
      substitutions in SCN4A and its clinical phenotypes. OBJECTIVE: To describe
      clinical and genetic features of a family with PMC of von Eulenburg. RESULTS: A
      Japanese family with cold-induced myotonia and weakness was diagnosed as having
      PMC of von Eulenburg. This phenotype was identified to be caused by a novel
      mutation that substituted a glutamic acid residue for a highly conserved glycine 
      residue in the fourth transmembrane segment (S4) of domain IV. This predicted a
      decrease in positive charge specific for the S4. CONCLUSION: In addition to the
      G1456E identified in this study, 4 mutations that cause a decrease in positive
      charge in the S4/D4 are associated with the phenotype of PMC of von Eulenburg.
      This provides an important genotype-phenotype correlation in sodium
      channelopathies.
FAU - Sasaki, R
AU  - Sasaki R
AD  - Department of Neurology, Brain Research Institute, Niigata University, Japan.
FAU - Takano, H
AU  - Takano H
FAU - Kamakura, K
AU  - Kamakura K
FAU - Kaida, K
AU  - Kaida K
FAU - Hirata, A
AU  - Hirata A
FAU - Saito, M
AU  - Saito M
FAU - Tanaka, H
AU  - Tanaka H
FAU - Kuzuhara, S
AU  - Kuzuhara S
FAU - Tsuji, S
AU  - Tsuji S
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - Arch Neurol
JT  - Archives of neurology
JID - 0372436
RN  - 0 (NAV1.4 Voltage-Gated Sodium Channel)
RN  - 0 (SCN4A protein, human)
RN  - 0 (Sodium Channels)
SB  - IM
MH  - Adult
MH  - Amino Acid Sequence
MH  - Amino Acid Substitution
MH  - Chromosome Mapping
MH  - Cold Temperature
MH  - Exons
MH  - Female
MH  - Genetic Linkage
MH  - Humans
MH  - Japan
MH  - Male
MH  - Models, Molecular
MH  - Molecular Sequence Data
MH  - Muscle, Skeletal/*metabolism
MH  - *Mutation, Missense
MH  - Myotonia Congenita/*genetics
MH  - NAV1.4 Voltage-Gated Sodium Channel
MH  - Pedigree
MH  - Phenotype
MH  - Polymerase Chain Reaction
MH  - Protein Structure, Secondary
MH  - Sodium Channels/chemistry/*genetics
EDAT- 1999/06/16 00:00
MHDA- 1999/06/16 00:01
CRDT- 1999/06/16 00:00
PHST- 1999/06/16 00:00 [pubmed]
PHST- 1999/06/16 00:01 [medline]
PHST- 1999/06/16 00:00 [entrez]
AID - 10.1001/archneur.56.6.692 [doi]
PST - ppublish
SO  - Arch Neurol. 1999 Jun;56(6):692-6. doi: 10.1001/archneur.56.6.692.