Clinical and pathological characteristics of four Korean patients with limb-girdle muscular dystrophy type 2B

Seung Hun Oh, Seong Woong Kang, Jin Goo Lee, Sang Jun Na, Tai Seung Kim, Young Chul Choi

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Abstract

Limb-girdle muscular dystrophy type 2B (LGMD2B), a subtype of autosomal recessive limb-girdle muscular dystrophy (ARLGMD), is characterized by a relatively late onset and slow progressive course. LGMD2B is known to be caused by the loss of the dysferlin protein at sarcolemma in muscle fibers. In this study, the clinical and pathological characteristics of Korean LGMD2B patients were investigated. Seventeen patients with ARLGMD underwent muscle biopsy and the histochemical examination was performed. For the immunocytochemistry, a set of antibodies against dystrophin, α, β, γ, δ- sarcoglycans, dysferlin, caveolin-3, and β-dystroglycan was used. Four patients (24%) showed selective loss of immunoreactivity against dysferlin at the sarcolemma on the muscle specimens. Therefore, they were classified into the LGMD2B category. The age at the onset of disease ranged from 9 yr to 33 yr, and none of the patients was wheelchair bound at the neurological examination. The serum creatine kinase (CK) was high in all the patients (4010-5310 IU/L). The pathologic examination showed mild to moderate dystrophic features. These are the first Korean LGMD2B cases with a dysferlin deficiency confirmed by immunocytochemistry. The clinical, pathological, and immunocytochemical findings of the patients with LGMD2B in this study were in accordance with those of other previous reports.

Original languageEnglish
Pages (from-to)447-452
Number of pages6
JournalJournal of Korean medical science
Volume19
Issue number3
DOIs
Publication statusPublished - 2004 Jun

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Sarcolemma
Muscles
Caveolin 3
Immunohistochemistry
Sarcoglycans
Dystroglycans
Dystrophin
Wheelchairs
Neurologic Examination
Creatine Kinase
Age of Onset
Type 2B Limb-girdle muscular dystrophy
Biopsy
Antibodies
Serum
Proteins
Limb-girdle muscular dystrophy autosomal recessive

All Science Journal Classification (ASJC) codes

  • Medicine(all)

Cite this

Oh, Seung Hun ; Kang, Seong Woong ; Lee, Jin Goo ; Na, Sang Jun ; Kim, Tai Seung ; Choi, Young Chul. / Clinical and pathological characteristics of four Korean patients with limb-girdle muscular dystrophy type 2B. In: Journal of Korean medical science. 2004 ; Vol. 19, No. 3. pp. 447-452.
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abstract = "Limb-girdle muscular dystrophy type 2B (LGMD2B), a subtype of autosomal recessive limb-girdle muscular dystrophy (ARLGMD), is characterized by a relatively late onset and slow progressive course. LGMD2B is known to be caused by the loss of the dysferlin protein at sarcolemma in muscle fibers. In this study, the clinical and pathological characteristics of Korean LGMD2B patients were investigated. Seventeen patients with ARLGMD underwent muscle biopsy and the histochemical examination was performed. For the immunocytochemistry, a set of antibodies against dystrophin, α, β, γ, δ- sarcoglycans, dysferlin, caveolin-3, and β-dystroglycan was used. Four patients (24{\%}) showed selective loss of immunoreactivity against dysferlin at the sarcolemma on the muscle specimens. Therefore, they were classified into the LGMD2B category. The age at the onset of disease ranged from 9 yr to 33 yr, and none of the patients was wheelchair bound at the neurological examination. The serum creatine kinase (CK) was high in all the patients (4010-5310 IU/L). The pathologic examination showed mild to moderate dystrophic features. These are the first Korean LGMD2B cases with a dysferlin deficiency confirmed by immunocytochemistry. The clinical, pathological, and immunocytochemical findings of the patients with LGMD2B in this study were in accordance with those of other previous reports.",
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Clinical and pathological characteristics of four Korean patients with limb-girdle muscular dystrophy type 2B. / Oh, Seung Hun; Kang, Seong Woong; Lee, Jin Goo; Na, Sang Jun; Kim, Tai Seung; Choi, Young Chul.

In: Journal of Korean medical science, Vol. 19, No. 3, 06.2004, p. 447-452.

Research output: Contribution to journalArticle

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