- The Genotype and Clinical Phenotype of Korean Patients with Familial Hypokalemic Periodic Paralysis
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Kim JB, Kim MH, Lee SJ, Kim DJ, Lee BC
- KMID: 1785751
- J Korean Med Sci.
- 2007 Dec;22(6):946-951.
- doi: 10.3346/jkms.2007.22.6.946
Familial hypokalemic periodic paralysis (HOPP) is a rare autosomal-dominant disease characterized by reversible attacks of muscle weakness occurring with episodic hypokalemia. Mutations in the skeletal muscle calcium (CACNA1S) and sodium... -
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- Rapid Detection of Duplication/Deletion of the PMP22 Gene in Patients with Charcot-Marie-Tooth Disease Type 1A and Hereditary Neuropathy with Liability to Pressure Palsy by Real-time Quantitative PCR using SYBR Green I Dye
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Kim SW, Lee KS, Jin HS, Lee TM, Koo SK, Lee YJ, Jung SC
- KMID: 1130046
- J Korean Med Sci.
- 2003 Oct;18(5):727-732.
- doi: 10.3346/jkms.2003.18.5.727
Mutations and altered gene dosage of the peripheral myelin protein (PMP22) gene in chromosome 17p11.2-12 are the main causes for hereditary neuropathies, accounting for approximately 70% of all cases. Patients... -
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- Hereditary neuropathy with liability to pressure palsies (HNPP) patients of Korean ancestry with chromosome 17p11.2-p12 deletion
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Kim SM, Chung KW, Choi BO, Yoon ES, Choi JY, Park KD, Sunwoo IN
- KMID: 755662
- Exp Mol Med.
- 2004 Feb;36(1):28-35.
Hereditary neuropathy with liability to pressure palsies (HNPP) is an autosomal dominant inherited disorder characterized by recurrent pressure palsies. Most HNPP patients have a 1.5 mb deletion in chromosome 17p11.2-p12.... -
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