A case of de novo dynamin 2 (DNM2)-related centronuclear myopathy with electrical but not clinical myotonia

Nicotinamide dehydrogenase tetrazolium reductase staining revealed increased perinuclear oxidative activity and sarcoplasmic strands radiating from the central nucleus conferring a spoke-like appearance, which was also observed in immunohistochemical desmin and vimentin staining [Figure 1 C–F]. In 2...

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Bibliographic Details
Published in:Chinese medical journal 2020-08, Vol.133 (24), p.3023-3024
Main Authors: Huang, Xiao, Liu, Xiang-Yi, Chen, Lu, Sun, A-Ping, Zhang, Ying-Shuang, Zheng, Dan-Feng, Zhong, Yan-Feng, Fan, Dong-Sheng
Format: Article
Language:English
Subjects:
Atrophy
Biopsy
Correspondence
Dehydrogenases
Dynamin II - genetics
Humans
Muscle, Skeletal
Mutation
Myopathies, Structural, Congenital - diagnosis
Myopathies, Structural, Congenital - genetics
Myotonia
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Summary:Nicotinamide dehydrogenase tetrazolium reductase staining revealed increased perinuclear oxidative activity and sarcoplasmic strands radiating from the central nucleus conferring a spoke-like appearance, which was also observed in immunohistochemical desmin and vimentin staining [Figure 1 C–F]. In 2018, Stino and Iyadurai reported a patient presenting electrical but not clinical myotonia, carrying the same mutation (R522H) on the DNM2 gene; however, the patient did not undergo muscle biopsy evaluation. According to the function of DNM2 protein and the morphologic change in immunohistochemical desmin and vimentin staining, we presume that the myotonia may result from the impairment of cytoskeleton networks and membrane modulation.
ISSN:0366-6999
2542-5641
DOI:10.1097/CM9.0000000000000974