Abstract
Limb-girdle muscular dystrophies (LGMD) are heterogeneous disorders with autosomal inheritance. Autosomal dominant LGMD mapped to 7q36.3 has been classified as LGMD type 1D (LGMD1D) in the Human Gene Nomenclature Committee Database. LGMD1D is characterized predominantly by limb-girdle weakness and may also show a bulbar symptom in some cases. In the past, the frequency of this disease was uncommon, and this disorder was mainly found in Europe and the United States. However, recently, this disorder has been reported in Asia, including Japan, Korea, and Taiwan. Here, we report on three LG-MD1D patients, including one with a novel mutation in DNAJB6, c.298T>A. While two patients complained of limb-girdle weakness, as would be expected, one patient had distal weakness. They had various serum creatine kinase levels. Radiologic findings in one patient showed fatty degeneration and atrophy in the posterior part of distal muscles. Pathologic findings in one of the patients showed rimmed vacuoles. Although LGMD1D is still uncommon in Korea, we discovered three Korean patients with LG-MD1D, including one novel mutation in DNAJB6, p.Phe100Ile (c.298T>A).
| Original language | English |
|---|---|
| Pages (from-to) | 698-701 |
| Number of pages | 4 |
| Journal | Yonsei medical journal |
| Volume | 59 |
| Issue number | 5 |
| DOIs | |
| Publication status | Published - 2018 Jul |
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- Medicine(all)
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Two Korean families with limb-girdle muscular dystrophy type 1D associated with DNAJB6 mutations. / Kim, Kitae; Park, Hyung Jun; Lee, Jung Hwan; Hong, Jiman; Ahn, Suk Won; Choi, Young Chul.
In: Yonsei medical journal, Vol. 59, No. 5, 07.2018, p. 698-701.Research output: Contribution to journal › Article
TY - JOUR
T1 - Two Korean families with limb-girdle muscular dystrophy type 1D associated with DNAJB6 mutations
AU - Kim, Kitae
AU - Park, Hyung Jun
AU - Lee, Jung Hwan
AU - Hong, Jiman
AU - Ahn, Suk Won
AU - Choi, Young Chul
PY - 2018/7
Y1 - 2018/7
N2 - Limb-girdle muscular dystrophies (LGMD) are heterogeneous disorders with autosomal inheritance. Autosomal dominant LGMD mapped to 7q36.3 has been classified as LGMD type 1D (LGMD1D) in the Human Gene Nomenclature Committee Database. LGMD1D is characterized predominantly by limb-girdle weakness and may also show a bulbar symptom in some cases. In the past, the frequency of this disease was uncommon, and this disorder was mainly found in Europe and the United States. However, recently, this disorder has been reported in Asia, including Japan, Korea, and Taiwan. Here, we report on three LG-MD1D patients, including one with a novel mutation in DNAJB6, c.298T>A. While two patients complained of limb-girdle weakness, as would be expected, one patient had distal weakness. They had various serum creatine kinase levels. Radiologic findings in one patient showed fatty degeneration and atrophy in the posterior part of distal muscles. Pathologic findings in one of the patients showed rimmed vacuoles. Although LGMD1D is still uncommon in Korea, we discovered three Korean patients with LG-MD1D, including one novel mutation in DNAJB6, p.Phe100Ile (c.298T>A).
AB - Limb-girdle muscular dystrophies (LGMD) are heterogeneous disorders with autosomal inheritance. Autosomal dominant LGMD mapped to 7q36.3 has been classified as LGMD type 1D (LGMD1D) in the Human Gene Nomenclature Committee Database. LGMD1D is characterized predominantly by limb-girdle weakness and may also show a bulbar symptom in some cases. In the past, the frequency of this disease was uncommon, and this disorder was mainly found in Europe and the United States. However, recently, this disorder has been reported in Asia, including Japan, Korea, and Taiwan. Here, we report on three LG-MD1D patients, including one with a novel mutation in DNAJB6, c.298T>A. While two patients complained of limb-girdle weakness, as would be expected, one patient had distal weakness. They had various serum creatine kinase levels. Radiologic findings in one patient showed fatty degeneration and atrophy in the posterior part of distal muscles. Pathologic findings in one of the patients showed rimmed vacuoles. Although LGMD1D is still uncommon in Korea, we discovered three Korean patients with LG-MD1D, including one novel mutation in DNAJB6, p.Phe100Ile (c.298T>A).
UR - http://www.scopus.com/inward/record.url?scp=85048167175&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=85048167175&partnerID=8YFLogxK
U2 - 10.3349/ymj.2018.59.5.698
DO - 10.3349/ymj.2018.59.5.698
M3 - Article
C2 - 29869469
AN - SCOPUS:85048167175
VL - 59
SP - 698
EP - 701
JO - Yonsei Medical Journal
JF - Yonsei Medical Journal
SN - 0513-5796
IS - 5
ER -