Clinical, pathological, and genetic features of dynamin-2-related centronuclear myopathy in China

Chen, Ting; Chen, Pu; Wang, Qian; Liu, Jiexiao; Mao, Yanling; Shi, Qiang

doi:10.1007/s10072-014-2028-6

Cited by 12 publications

(5 citation statements)

References 17 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Furthermore, it has been noted that DM1 may give rise to central nuclei on muscle biopsy and that cataracts can be a feature of DNM2 ‐related CNM, which can give rise to diagnostic confusion between both conditions. It is worth noting that the same DNM2 mutation seen in our family (resulting in R522H) was identified in a man in a previously described Chinese cohort with biopsy‐proven CNM who had onset of symptoms in childhood . However, myotonic discharges were not reported in that patient or the other 6 patients in that report.…”

Section: Discussionsupporting

confidence: 54%

Dynamin‐2‐associated myopathy with electrical but not clinical myotonia

Stino

Iyadurai

2017

Muscle and Nerve

View full text Add to dashboard Cite

Section: Discussionsupporting

confidence: 54%

Dynamin‐2‐associated myopathy with electrical but not clinical myotonia

Stino

Iyadurai

2017

Muscle and Nerve

View full text Add to dashboard Cite

“…The prevalence of internal myonuclei in the absence of regenerating fibers is reminiscent of human centronuclear myopathy (CNM). CNM is typically associated with type I fiber predominance and, in the case of DNM2- and BIN1- related CNM, a radial intermyofibrillar network ( Böhm et al, 2014 ; Chen et al, 2015 ; Cowling et al, 2014 ; Romero, 2010 ; Romero and Bitoun, 2011 ). To study these characteristics, we performed NADH-tetrazolium reductase (NADH-TR) staining on frozen sections of tibialis anterior.…”

Section: Resultsmentioning

confidence: 99%

Mouse myofibers lacking the SMYD1 methyltransferase are susceptible to atrophy, internalization of nuclei and myofibrillar disarray

Stewart

Lopez

Nagandla

et al. 2016

Disease Models &Amp; Mechanisms

View full text Add to dashboard Cite

The Smyd1 gene encodes a lysine methyltransferase specifically expressed in striated muscle. Because Smyd1-null mouse embryos die from heart malformation prior to formation of skeletal muscle, we developed a Smyd1 conditional-knockout allele to determine the consequence of SMYD1 loss in mammalian skeletal muscle. Ablation of SMYD1 specifically in skeletal myocytes after myofiber differentiation using Myf6cre produced a non-degenerative myopathy. Mutant mice exhibited weakness, myofiber hypotrophy, prevalence of oxidative myofibers, reduction in triad numbers, regional myofibrillar disorganization/breakdown and a high percentage of myofibers with centralized nuclei. Notably, we found broad upregulation of muscle development genes in the absence of regenerating or degenerating myofibers. These data suggest that the afflicted fibers are in a continual state of repair in an attempt to restore damaged myofibrils. Disease severity was greater for males than females. Despite equivalent expression in all fiber types, loss of SMYD1 primarily affected fast-twitch muscle, illustrating fiber-type-specific functions for SMYD1. This work illustrates a crucial role for SMYD1 in skeletal muscle physiology and myofibril integrity.

show abstract

“…Of 32 patients reported to have DNM2 -related CNM with p.R465W mutation, 30 patients (94%) had either ophthalmoplegia or ptosis [5][6][7][8]. In Asia, the most common mutation reported among DNM2related CNM patients is p.R369W [9][10][11]. Asian reports describe much lower frequencies of ocular symptoms, with only 7 of 19 patients having either ptosis or ophthalmoplegia.…”

Section: Discussionmentioning

confidence: 99%

A family with dynamin 2-related centronuclear myopathy without ocular involvement

2016

View full text Add to dashboard Cite

JGM ryanodine 1 (RYR1), and amphiphysin 2 (BIN1) [2]. We present the first reported familial case of DNM2-related CNM among Koreans that showed no ocular symptoms, extending the phenotypic variability of the DNM2-related CNM. CaseA 48-year-old man presented with progressive weakness that started in the first decade of his life. He had difficulty climbing stairs since the third decade of his life. The initial neurological examination of the patient revealed a slender myopathic face with temporal muscle atrophy, without ptosis or ophthalmoplegia (Fig. 1A). Motor power examination revealed that the motor powers in his proximal and distal muscles were of Centronuclear myopathy (CNM) is a rare congenital myopathy that is pathologically characterized by the centrally located nuclei in most of the muscle fibers. On clinical examination, dynamin 2 (DNM2)-related CNM typically shows distal dominant muscle atrophy, ptosis, ophthalmoplegia, and contracture. The reported cases of CNM in Caucasian studies show a high prevalence rate of early-onset ptosis and ophthalmoplegia and correlated with the severity of the disease. However, Asian reports show a low prevalence and late-onset ocular symptoms in DNM2-related CNM patients. p.R465W is one of the most commonly found mutations in Western countries, and all the cases showed ocular symptoms. The proband and his daughter had no ocular symptoms despite harboring the same p.R465W mutation. This family makes us speculate that ocular symptoms in DNM2-related CNM are influenced by ethnic background. In addition, this is the first familial case of DNM2related CNM in Korea.

show abstract

Clinical, pathological, and genetic features of dynamin-2-related centronuclear myopathy in China

Cited by 12 publications

References 17 publications

Dynamin‐2‐associated myopathy with electrical but not clinical myotonia

Dynamin‐2‐associated myopathy with electrical but not clinical myotonia

Mouse myofibers lacking the SMYD1 methyltransferase are susceptible to atrophy, internalization of nuclei and myofibrillar disarray

A family with dynamin 2-related centronuclear myopathy without ocular involvement

Contact Info

Product

Resources

About