Title of article :
Mutation in TWINKLE in a Large Iranian Family with Progressive External Ophthalmoplegia, Myopathy, Dysphagia and Dysphonia, and Behavior Change
Author/Authors :
Tafakhori، Abbas نويسنده Iranian Center of Neurological Research, Neurology Department, Tehran University of Medical Sciences , , Yu Jin Ng، Alvin نويسنده Institute of Molecular and Cell Biology, Singapore , , Tohari، Sumanty نويسنده Institute of Molecular and Cell Biology, Singapore , , Venkatesh، Byrappa نويسنده Institute of Molecular and Cell Biology, Singapore , , Lee، Hane نويسنده Department of Human Genetics, David Geffen School of Medicine, University of California , , Eskin، Ascia نويسنده Department of Human Genetics, David Geffen School of Medicine, University of California , , F. Nelson، Stanley نويسنده Department of Human Genetics, David Geffen School of Medicine, University of California , , Bonnard، Carine نويسنده Institute of Medical Biology, Singapore , , Reversade، Bruno نويسنده Institute of Medical Biology, Singapore , , Kariminejad، Ariana نويسنده Kariminejad-Najmabadi Pathology & Genetics Center, Tehran ,
Issue Information :
ماهنامه با شماره پیاپی سال 2016
Abstract :
Background: TWINKLE (c10orf2) gene is responsible for autosomal dominant progressive external ophthalmoplegia (PEO). In rare
cases, additional features such as muscle weakness, peripheral neuropathy, ataxia, cardiomyopathy, dysphagia, dysphonia, cataracts, depression,
dementia, parkinsonism, and hearing loss have been reported in association with heterozygous mutations of the TWINKLE gene.
Methods: We have studied a large Iranian family with myopathy, dysphonia, dysphagia, and behavior change in addition to PEO in affected
members.
Results:10orf2 gene in all affected members. Early death is a novel feature seen
in affected members of this family that has not been reported to date.
Conclusion: The association of PEO, myopathy, dysphonia, dysphagia, behavior change and early death has not been previously reported
in the literature or other patients with this mutation.
Keywords :
Myopathy , Ptosis , TWINKLE , progressive external ophthalmoplegia , Dysphonia
Journal title :
Archives of Iranian Medicine
Journal title :
Archives of Iranian Medicine
