Mutation in DHP receptor alpha1 subunit (CACLN1A3) gene in a Dutch family with hypokalaemic periodic paralysis

Autor: Boerman, R.H., Ophoff, R.A., Links, T.P., Eijk, R. van, Sandkuijl, L.A., Elbaz, A., Vale-Santos, J.E., Wintzen, A.R., Deutekom, J.C.T. van, Isles, D.E., Fontaine, B., Padberg, G.W., Frants, R.R.

Publikováno v: JOURNAL OF MEDICAL GENETICS, 32(1), 44-47. BMJ PUBLISHING GROUP
Journal of Medical Genetics, 32, 44-47
Journal of Medical Genetics, 32, 1, pp. 44-47

Hypokalaemic periodic paralysis (HypoPP) is characterised by transient attacks of muscle weakness of varying duration and severity accompanied by a drop in serum potassium concentration during the attacks. The largest known HypoPP family is of Dutch

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::7059bc379c09a0f0afafe42448e05b17
https://hdl.handle.net/2066/20690

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