Muscle fiber conduction velocity in arg1239his mutation in hypokalemic periodic paralysis [3]

Muscle and Nerve

Volumn 23, Issue 2, 2000, Pages 296-

  Links, Thera P ^a   Van Der Hoeven, Johannes H ^a  

^a UNIVERSITY MEDICAL CENTER GRONINGEN   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

ARGININE; HISTIDINE; POTASSIUM;

ADOLESCENT; CASE REPORT; CHROMOSOME 1Q; ELECTROMYOGRAPHY; FEMALE; HUMAN; HYPOKALEMIC PERIODIC PARALYSIS; LETTER; MUSCLE FIBER MEMBRANE CONDUCTANCE; POINT MUTATION; POTASSIUM BLOOD LEVEL; PRIORITY JOURNAL;

ADOLESCENT; AMINO ACID SUBSTITUTION; FEMALE; HUMANS; HYPOKALEMIA; MUSCLE FIBERS; MUTATION; NEURAL CONDUCTION; PARALYSES, FAMILIAL PERIODIC; POINT MUTATION;

EID: 17344392245     PISSN: 0148639X     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1097-4598(200002)23:2<296::AID-MUS27>3.0.CO;2-8     Document Type: Letter

References (5)

1. Elbaz A, Vale-Santos J, Jurkatt-Rott K, Lapie P, Ophoft RA, Bady B, Links TP, Puissan C, Villa A, Monnier N, Padberg GW, Abe K, Feingold N, Guimaraes J, Wintzen AR, van der Hoeven JH, Saudubray JM, Grunfeld JP, Lenoir G, Nivet H, Echenne B, Frants RR, Fardeau M, Lehmann-Horn F, Fontaine B. Hypokalemic periodic paralysis (hypoPP) and the dihydropyridine receptor (CACNLA1A3): genotype/phenotype correlations for two predominant mutations and evidence for the absence of a founder effect in 16 Caucasian families. Am J Hum Genet 1995;56:374-380.
2. Fontaine B, Vale-Santos JM, Jurkatt-Rott K, Reboul J, Plassart E, Rime CS, Elbaz A, Heine R, Guimaraes J, Weissenbach J, Baumann N, Fardau M, Lehmann-Horn F. Mapping of hypokalaemic periodic paralysis (HypoPP) to chromosome 1q31-q32 in three European families. Nat Genet 1994;6:267-272.
3. Links TP, van der Hoeven JH, Zwarts MJ. Surface EMG and muscle fibre conduction changes during attacks of hypokalaemic periodic paralysis. J Neurol Neurosurg Psychiatry 1994;57:632-634.
4. van der Hoeven JH, Links TP, Zwarts MJ, van Weerden TW. Muscle fiber conduction velocity in the diagnosis of familial hypokalemic periodic paralysis. Muscle Nerve 1994; 17:898-905.
5. Zwarts MJ, van Weerden TW, Links TP, Haenen HTM, Oosterhuis HJGH. The muscle liber conduction velocity and power spectra in familial hypokalemic periodic paralysis. Muscle Nerve 1988;11:166-173.