Activity-induced weakness in recessive myotonia congenita with a novel (696 + 1G > A) mutation

Clinical Neurophysiology

Volumn 117, Issue 9, 2006, Pages 2064-2068

  McKay, Owen M ^a   Krishnan, Arun V ^b,c   Davis, Mark ^d   Kiernan, Matthew C ^b,c  

^a AUSTRALIAN NATIONAL UNIVERSITY   (Australia)

^b PRINCE OF WALES HOSPITAL   (Australia)

^c UNIVERSITY OF NEW SOUTH WALES   (Australia)

^d ROYAL PERTH HOSPITAL   (Australia)

Author keywords

Myotonia congenita; Nerve excitability; Repetitive stimulation

Indexed keywords

ADULT; ARTICLE; CASE REPORT; COMPARATIVE STUDY; CONTROLLED STUDY; DEPOLARIZATION; FATIGUE; HUMAN; MALE; MEDIAN NERVE; MUSCLE ACTION POTENTIAL; MUSCLE CONTRACTION; MUSCLE FIBER MEMBRANE; MUTATION; NERVE EXCITABILITY; NERVE FIBER; NERVE STIMULATION; PRIORITY JOURNAL; STIMULUS RESPONSE; THOMSEN DISEASE; WEAKNESS; WRIST;

ACTION POTENTIALS; ADULT; CHLORIDE CHANNELS; ELECTRIC STIMULATION; ELECTROMYOGRAPHY; HUMANS; MALE; MEDIAN NERVE; MUSCLE CONTRACTION; MUSCLE, SKELETAL; MUTATION; MYOTONIA CONGENITA; REACTION TIME;

EID: 33747368291     PISSN: 13882457     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.clinph.2006.05.014     Document Type: Article

References (15)

1. Adrian R.H., and Bryant S.H. On the repetitive discharge in myotonic muscle fibres. J Physiol (Lond) 240 (1974) 505-515
2. Aminoff M.J., Layzer R.B., Satya-Murti S., and Faden A.I. The declining electrical response of muscle to repetitive nerve stimulation in myotonia. Neurology 27 (1977) 812-816
3. Burke D., Kiernan M.C., and Bostock H. Excitability of human axons. Clin Neurophysiol 112 (2001) 1575-1585
4. Bigland-Ritchie B., Johansson R., Lippold O.C., Smith S., and Woods J.J. Changes in motoneurone firing rates during sustained maximal voluntary contractions. J Physiol (Lond) 340 (1983) 335-346
5. Brown J.C. Muscle weakness after rest in myotonic disorders; an electrophysiological study. J Neurol Neurosurg Psychiatry 37 (1974) 1336-1342
6. Brugnoni R., Galantini S., Confalonieri P., Balestrini M.R., Cornelio F., and Mantegazza R. Identification of three novel mutations in the major human skeletal muscle chloride channel gene (CLCN1), causing myotonia congenita. Hum Mutat 14 (1999) 447
7. Colding-Jorgensen E., Duno M., Schwartz M., and Vissing J. Decrement of compound muscle action potential is related to mutation type in myotonia congenita. Muscle Nerve 27 (2003) 449-455
8. Desaphy J.F., De Luca A., Didonna M.P., George Jr. A.L., and Camerino Conte D. Different flecainide sensitivity of hNav1.4 channels and myotonic mutants explained by state-dependent block. J Physiol (Lond) 554 (2004) 321-334
9. Fournier E., Arzel M., Sternberg D., Vicart S., Laforet P., Eymard B., et al. Electromyography guides toward subgroups of mutations in muscle channelopathies. Ann Neurol 56 (2004) 650-661
10. Kiernan M.C., Burke D., Andersen K.V., and Bostock H. Multiple measures of axonal excitability: a new approach in clinical testing. Muscle Nerve 23 (2000) 399-409
11. Kiernan M.C., Lin C.S., and Burke D. Differences in activity-dependent hyperpolarization in human sensory and motor axons. J Physiol 558 (2004) 341-349
12. Koch M.C., Steinmeyer K., Lorenz C., Ricker K., Wolf F., Otto M., et al. The skeletal muscle chloride channel in dominant and recessive human myotonia. Science 257 (1992) 797-800
13. Meyer-Kleine C., Steinmeyer K., Ricker K., Jentsch T.J., and Koch M.C. Spectrum of mutations in the major human skeletal muscle chloride channel gene (CLCN1) leading to myotonia. Am J Hum Genet 57 (1995) 1325-1334
14. Pusch M. Myotonia caused by mutations in the muscle chloride channel gene CLCN1. Hum Mutat 19 (2002) 423-434
15. Ricker K., and Meinck H.M. Paramyotonia congenita (Eulenburg). Neurophysiologic studies of a case. Z Neurol 203 (1972) 13-22