Mutation in TWINKLE in a Large Iranian Family with Progressive External Ophthalmoplegia, Myopathy, Dysphagia and Dysphonia, and Behavior Change

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TAFAKHORI ABBAS; Jin Ng Alvin Yu; Tohari Sumanty; Venkatesh Byrappa; Lee Hane; Eskin Ascia; Nelson Stanley F.; Bonnard Carine; REVERSADE BRUNO; KARIMINEJAD ARIANA

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Journal: ARCHIVES OF IRANIAN MEDICINE Year:2016 | Volume:19 | Issue:2 Page(s): 87-91

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Title

Mutation in TWINKLE in a Large Iranian Family with Progressive External Ophthalmoplegia, Myopathy, Dysphagia and Dysphonia, and Behavior Change

Author(s)

Keywords

Dysphonia

myopathy

ptosis

progressive external ophthalmoplegia

TWINKLE

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: We identified a missense mutation c. 1121G > A in the c10orf2 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.

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APA: Copy

TAFAKHORI, ABBAS, Jin Ng, Alvin Yu, Tohari, Sumanty, Venkatesh, Byrappa, Lee, Hane, Eskin, Ascia, Nelson, Stanley F., Bonnard, Carine, REVERSADE, BRUNO, & KARIMINEJAD, ARIANA. (2016). Mutation in TWINKLE in a Large Iranian Family with Progressive External Ophthalmoplegia, Myopathy, Dysphagia and Dysphonia, and Behavior Change. ARCHIVES OF IRANIAN MEDICINE, 19(2), 87-91. SID. https://sid.ir/paper/281445/en

Vancouver: Copy

TAFAKHORI ABBAS, Jin Ng Alvin Yu, Tohari Sumanty, Venkatesh Byrappa, Lee Hane, Eskin Ascia, Nelson Stanley F., Bonnard Carine, REVERSADE BRUNO, KARIMINEJAD ARIANA. Mutation in TWINKLE in a Large Iranian Family with Progressive External Ophthalmoplegia, Myopathy, Dysphagia and Dysphonia, and Behavior Change. ARCHIVES OF IRANIAN MEDICINE[Internet]. 2016;19(2):87-91. Available from: https://sid.ir/paper/281445/en

IEEE: Copy

ABBAS TAFAKHORI, Alvin Yu Jin Ng, Sumanty Tohari, Byrappa Venkatesh, Hane Lee, Ascia Eskin, Stanley F. Nelson, Carine Bonnard, BRUNO REVERSADE, and ARIANA KARIMINEJAD, “Mutation in TWINKLE in a Large Iranian Family with Progressive External Ophthalmoplegia, Myopathy, Dysphagia and Dysphonia, and Behavior Change,” ARCHIVES OF IRANIAN MEDICINE, vol. 19, no. 2, pp. 87–91, 2016, [Online]. Available: https://sid.ir/paper/281445/en

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