A Korean Family of Hypokalemic Periodic Paralysis with Mutation in a Voltage-gated Calcium Channel (R1239G)
Journal of Korean Medical Science
;
: 162-165, 2005.
Article
in English
| WPRIM
| ID: wpr-163756
ABSTRACT
Hypokalemic periodic paralysis (HOPP) is a rare disease characterized by reversible attacks of muscle weakness accompanied by episodic hypokalemia. Recent molecular work has revealed that the majority of familial HOPP is due to mutations in a skeletal muscle voltage-dependent calcium-channel the dihydropyridine receptor. We report a 13-yr old boy with HOPP from a family in which 6 members are affected in three generations. Genetic examination identified a nucleotide 3705 C to G mutation in exon 30 of the calcium channel gene, CACNA1S. This mutation predicts a codon change from arginine to glycine at the amino acid position #1239 (R1239G). Among the three known mutations of the CACNA1S gene, the R1239G mutation was rarely reported. This boy and the other family members who did not respond to acetazolamide, showed a marked improvement of the paralytic symptoms after spironolactone treatment.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Pedigree
/
Arginine
/
Spironolactone
/
Codon
/
Calcium Channels
/
Exons
/
Family Health
/
Sequence Analysis, DNA
/
Protein Structure, Tertiary
/
Muscle, Skeletal
Type of study:
Prognostic study
Limits:
Adolescent
/
Female
/
Humans
/
Male
Country/Region as subject:
Asia
Language:
English
Journal:
Journal of Korean Medical Science
Year:
2005
Type:
Article
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