A case of de novo dynamin 2 (DNM2)-related centronuclear myopathy with electrical but not clinical myotonia
Chin Med J (Engl)
.
2020 Aug 18;133(24):3023-3024.
doi: 10.1097/CM9.0000000000000974.
Authors
Xiao Huang
1
2
,
Xiang-Yi Liu
1
2
,
Lu Chen
1
2
,
A-Ping Sun
1
2
,
Ying-Shuang Zhang
1
2
,
Dan-Feng Zheng
2
3
,
Yan-Feng Zhong
2
3
,
Dong-Sheng Fan
1
2
4
Affiliations
1
Department of Neurology, Peking University Third Hospital, Beijing 100191, China.
2
Beijing Municipal Key Laboratory of Biomarker and Translational Research in Neurodegenerative diseases, Beijing 100191, China.
3
Department of Pathology, School of Basic Medical Sciences, Peking University, Beijing 100191, China.
4
Key Laboratory for Neuroscience, National Health Commission/Ministry of Education, Peking University, Beijing 100191, China.
PMID:
32826616
PMCID:
PMC7752664
DOI:
10.1097/CM9.0000000000000974
No abstract available
Publication types
Case Reports
MeSH terms
Dynamin II / genetics
Humans
Muscle, Skeletal
Mutation
Myopathies, Structural, Congenital* / diagnosis
Myopathies, Structural, Congenital* / genetics
Myotonia*
Substances
DNM2 protein, human
Dynamin II