TITLE

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

AUTHOR(S)
Chen, Ting; Pu, Chuanqiang; Wang, Qian; Liu, Jiexiao; Mao, Yanling; Shi, Qiang
PUB. DATE
May 2015
SOURCE
Neurological Sciences;May2015, Vol. 36 Issue 5, p735
SOURCE TYPE
Academic Journal
DOC. TYPE
Article
ABSTRACT
Mutations in the dynamin-2 ( DNM2) gene can cause autosomal dominant or sporadic centronuclear myopathy (CNM). We aimed to analyze the clinical, pathological and genetic characteristic of patients with DNM2-related CNM in China. We studied seven patients, all of whom underwent clinical examination, muscle biopsy, electromyography, and genetic tests. DNM2 gene analysis revealed two sporadic patients harboring the p.E368K mutation, two patients from one family carrying p.R369Q, one with p.R369W, one with p.R523G and one with compound heterozygous mutations of p.R522H and p.R718Q. In DNM2-related CNM, ptosis, ophthalmoplegia/paresis, and facial weakness are the frequently observed manifestations. However, among these seven patients, only one had bilateral ptosis; one, external ophthalmoplegia and one, facial weakness. Muscle biopsy showed that the percentage of muscle fibers with centrally located nuclei ranged from 67 to 93 %, all with radial sarcoplasmic strands. To date, five different CNM-related DNM2 mutations have been observed in China. Here, a patient with compound heterozygous DNM2 mutations was reported for the first time. Facial weakness, ptosis and ophthalmoplegia did not appear to be common in Chinese patients. This study on Chinese patients broadens the spectrum of DNM2-related CNM.
ACCESSION #
102426716

 

Related Articles

  • Myotonia in DNM2-related centronuclear myopathy. Dabby, Ron; Sadeh, Menachem; Gilad, Ronit; Jurkat-Rott, Karin; Lehmann-Horn, Frank; Leshinsky-Silver, Esther // Journal of Neural Transmission;May2014, Vol. 121 Issue 5, p549 

    Centronuclear myopathy (CNM) is a rare hereditary myopathy characterized by centrally located muscle fiber nuclei. Mutations in the dynamin 2 ( DNM2) gene are estimated to account for about 50 % of CNM cases. Electromyographic recordings in CNM may show myopathic motor unit potentials without...

  • Centronuclear Myopathy in Labrador Retrievers: A Recent Founder Mutation in the PTPLA Gene Has Rapidly Disseminated Worldwide. Maurer, Marie; Mary, Jérôme; Guillaud, Laurent; Fender, Marilyn; Pelé, Manuel; Bilzer, Thomas; Olby, Natasha; Penderis, Jacques; Shelton, G. Diane; Panthier, Jean-Jacques; Thibaud, Jean-Laurent; Barthélémy, Inès; Aubin-Houzelstein, Geneviève; Blot, Stéphane; Hitte, Christophe; Tiret, Laurent // PLoS ONE;Oct2012, Vol. 7 Issue 10, Special section p1 

    Centronuclear myopathies (CNM) are inherited congenital disorders characterized by an excessive number of internalized nuclei. In humans, CNM results from ~70 mutations in three major genes from the myotubularin, dynamin and amphiphysin families. Analysis of animal models with altered expression...

  • Early-onset CMT1B due to the MPZ mutation c.320A>T associated with collateral inclusion body myopathy and Deafness. Finsterer, Josef; Haberler, Christine; Auer-Grumbach, Michaela // British Journal of Medicine & Medical Research;Oct-Dec2013, Vol. 3 Issue 4, p832 

    Aims: To present the case of a patient with early-onset demyelinating neuropathy due to a MPZ-mutation, associated with deafness and inclusion-body-myopathy. Methods: Nerve conduction studies, electromyography, muscle biopsy, genetic testing. Results and Discussion: In a 46yo male with slowly...

  • Mitochondrial Depletion Causes Neonatal-Onset Leigh Syndrome, Myopathy, and Renal Tubulopathy. Lee, Inn-Chi; Lee, Ni-Chung; Lu, Jang-Jih; Su, Pen-Hua // Journal of Child Neurology;Mar2013, Vol. 28 Issue 3, p404 

    The authors describe a newborn with postnatal myopathy who subsequently developed feeding difficulties, ophthalmoplegia, ptosis, encephalopathy, and seizures. She became ventilator dependent after sudden apnea. The myopathy was without ragged red fibers in the muscle biopsy. An electron...

  • Upper blepharoplasty an alternative for ptosis in CPEO. Burnstine, Michael; Charters, Lynda // Ophthalmology Times;01/01/99, Vol. 24 Issue 1, p36 

    Focuses on the use of upper blepharoplasty in treating ptosis in patients with chronic progressive external ophthalmoplegia. Improvement of margin reflex distance; Surgery on patients whose condition was inoperable because of corneal compromise; Recovery time.

  • Assignment of a new congenital fibrosis of extraocular muscles type 3 (CFEOM3) locus, FEOM4, based on a balance translocation (2;13) (q37.3;q12.11) and identification of candidate genes. Aubourg, P.; Krahn, M.; Bernard, R.; Nguyen, K.; Forzano, O.; Boccaccio, I.; Delague, V.; Desandre-Giovannoli, A.; Pouget, J.; Depétris, D.; Mattei, M.-G.; Philip, N.; Lévy, N. // Journal of Medical Genetics;Mar2005, Vol. 42 Issue 3, p253 

    Reports on the assignment of a new congenital fibrosis of extraocular muscles type 3 (CFEOM3) locus. Characterization of congenital cranial dysinnervation disorders by ophthalmoplegia and ptosis; Exploration of three generation family in which members are affected with autosomal dominant CFEOM3;...

  • Blepharoptosis and External Ophthalmoplegia Associated with Long-Term Antiretroviral Therapy. Dinges, Warren L.; Witherspoon, S. Robert; Itani, Kamel M.; Garg, Abhimanyu; Peterson, Dolores M. // Clinical Infectious Diseases;9/15/2008, Vol. 47 Issue 6, p845 

    Background. Long-term antiretroviral therapy (ART) is associated with lipodystrophy, peripheral neuropathy, lactic acidosis, and myopathy. Blepharoptosis, without prior ART association, is usually caused by age-associated involutional ptosis, but it is also seen in mitochondrial myopathies with...

  • Treatment of orbital haemangiopericytoma with surgery and preoperative embolization. Jeeva, I; Chang, B Y P; Bagdonaite, L; Kalantzis, G; Fearnley, T E; Ismail, A; Patankar, T; Goddard, T // Eye;Feb2013, Vol. 27 Issue 2, p283 

    A letter to the editor is presented which discusses a case study of a 22-year-old woman with history of generalized ophthalmoplegia, hypoglobus, progressive ptosis, and 6/6 visual acuity.

  • Wills Eye. Batchelet, Andrew R. // Review of Ophthalmology;Feb2010, Vol. 17 Issue 2, p90 

    The article presents a case study of a 53-year-old Caucasian male complaining of headaches and with a history of decreased left eye vision and droopy left eyelid. The patient had a history of nasal congestion, hypothyroidism, and bladder cancer. Physical examination revealed a visual acuity of...

Share

Read the Article

Courtesy of THE LIBRARY OF VIRGINIA

Sorry, but this item is not currently available from your library.

Try another library?
Sign out of this library

Other Topics