Abstract:
:Miyoshi myopathy (MM) is an autosomal recessive distal muscular dystrophy caused by mutations in the dysferlin gene (DYSF) on chromosome 2p13. Although MM patients and their mutations in the DYSF gene have been found from all over the world, there is only one report of genetically confirmed case of MM in Korea. Recently, we encountered three unrelated Korean patients with MM and two of them have previously been considered as having a type of inflammatory myopathy. The clinical and laboratory evaluation showed typical features of muscle involvement in MM in all patients but one patient initially had moderate proximal muscle involvement and another showed incomplete quadriparesis with rapid progression. Direct sequencing analysis of the DYSF gene revealed that each patient had compound heterozygous mutations (Gln832X and Trp992Arg, Gln832X and Trp999Cys, and Lys1103X and Ile1401HisfsX8, respectively) among which three were novel. Although MM has been thought to be quite rare in Korea, it should be considered in a differential diagnosis of patients exhibiting distal myopathy.
journal_name
J Korean Med Scijournal_title
Journal of Korean medical scienceauthors
Cho HJ,Sung DH,Kim EJ,Yoon CH,Ki CS,Kim JWdoi
10.3346/jkms.2006.21.4.724subject
Has Abstractpub_date
2006-08-01 00:00:00pages
724-7issue
4eissn
1011-8934issn
1598-6357pii
200608724journal_volume
21pub_type
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