Byung Ok Choi

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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. The present study aimed at evaluating the deletion of the 17p11.2-p12 region in Korean subjects with families exhibiting HNPP phenotype,(More)
A Y-chromosomal short tandem repeat (Y-STR) dodecaplex PCR system for 12 loci has been developed, and using this system allele frequencies and haplotypes were determined in a Korean male population. From a study of 320 unrelated Korean males, 254 different haplotypes were identified. The haplotype diversity and discrimination capacity were estimated to be(More)
Cardiac involvement, such as conduction defects, is common in myotonic dystrophy type 1 (DM1), but congestive heart failure (CHF) is rare in young patients. A 21-year-old recruit was admitted in the department of cardiology with acute CHF after daily physical exercise for about one week in the boot camp. After recovery, neurologic consultation was requested(More)
A 39-year-old man with progressive peripheral neuropathy and autonomic failure showed amyloid deposition on sural nerve biopsy. Direct DNA sequencing of the TTR gene revealed a G to T mutation, causing a Lys to Asn substitution at position 35. This is the first FAP case in Korea which was diagnosed by a DNA test.
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