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A novel MYH7 mutation with prominent paraspinal and proximal muscle involvement

Title
A novel MYH7 mutation with prominent paraspinal and proximal muscle involvement
Authors
Park J.-M.Kim Y.J.Yoo J.H.Hong Y.B.Park J.H.Koo H.Chung K.W.Choi B.-O.
Ewha Authors
구혜수유정현최병옥홍영빈
SCOPUS Author ID
구혜수scopus; 유정현scopus
Issue Date
2013
Journal Title
Neuromuscular Disorders
ISSN
0960-8966JCR Link
Citation
vol. 23, no. 7, pp. 580 - 586
Indexed
SCI; SCIE; SCOPUS WOS scopus
Abstract
Laing distal myopathy (LDM) is caused by mutations in the MYH7 gene, and known to have muscle weakness of distal limbs and neck flexors. Through whole exome sequencing, we identified a novel p.Ala1439Pro MYH7 mutation in a Korean LDM family. This missense mutation is located in more N-terminal than any reported rod domain LDM mutations. In the early stage of disease, the present patients showed similar clinical patterns to the previously described patients of LDM. However, in the later stage, fatty replacement and atrophy of paraspinal or proximal leg muscles was more severely marked than lower leg muscles, and asymmetric atrophies were observed in trapezius, subscapularis and adductor magnus muscles. Distal myopathy like LDM showed marked and predominant fatty infiltrations in paraspinal or proximal leg muscles with marked asymmetry. These observations expand the clinical spectrum of LDM with the MYH7 mutation. © 2013 Elsevier B.V.
DOI
10.1016/j.nmd.2013.04.003
Appears in Collections:
의과대학 > 의학과 > Journal papers
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