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Clinical and genetic analysis of Korean patients with facioscapulohumeral muscular dystrophy

Cited 3 time in Web of Science Cited 3 time in Scopus
Authors
Ki, Chang-Seok; Lee, Seung-Tae; Kim, Kyung-Sook; Kim, Jong-Won; Hong, Yoon-Ho; Sung, Jung-Joon; Park, Kyung Seok; Lee, Kwang-Woo
Issue Date
2009-01-03
Publisher
Korean Academy of Medical Sciences
Citation
J Korean Med Sci. 2008; 23(6): 959-63
Keywords
Blotting, SouthernChromosomes, Human, Pair 4GenotypeKoreaMuscular Dystrophy, Facioscapulohumeral/*diagnosis/geneticsPedigreePhenotype*Sequence DeletionTandem Repeat Sequences
Abstract
Facioscapulohumeral muscular dystrophy (FSHD) is an autosomal dominantly inherited muscular disorder, which is characterized by weakness of facial, shoulder and hip girdle, humeral, and anterior distal leg muscles. The FSHD gene has been mapped to 4q35 and a deletion of integral copies of a 3.3-kb DNA repeat motif named D4Z4 was known to be the genetic background of the disorder. Although FSHD is the second most common muscular dystrophy in adulthood, there were few reports on the genetically confirmed patients in Korea. Recently, we experienced four Korean patients with clinical features resembling FSHD. In order to confirm the diagnosis, conventional Southern blot (SB) analysis by using double digestion with EcoRI and BlnI and hybridization with p13E-11 probe was performed in three patients and newly developed long polymerase chain reaction (PCR) method was used for one patient because genomic DNA was not enough for conventional SB for this patient. All patients were demonstrated to have shortened D4Z4 repeats that were consistent with FSHD. Therefore, we could confirm the diagnosis of FSHD in four Korean patients and appropriate genetic counseling was done for the patients and their families. It is of note that long-PCR method could be a good alternative for conventional SB when D4Z4 repeats were less than 5.
ISSN
1011-8934 (Print)
Language
English
URI
http://hdl.handle.net/10371/62008
DOI
https://doi.org/10.3346/jkms.2008.23.6.959
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College of Medicine/School of Medicine (의과대학/대학원)Dept. of Neurology (신경과학교실)Journal Papers (저널논문_신경과학교실)
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