TY - JOUR
T1 - Mutation in twinkle in a large Iranian family with progressive external ophthalmoplegia, myopathy, dysphagia and dysphonia, and behavior change
AU - Tafakhori, Abbas
AU - Yu Jin Ng, Alvin
AU - Tohari, Sumanty
AU - Venkatesh, Byrappa
AU - Lee, Hane
AU - Eskin, Ascia
AU - Nelson, Stanley F.
AU - Bonnard, Carine
AU - Reversade, Bruno
AU - Kariminejad, Ariana
N1 - Generated from Scopus record by KAUST IRTS on 2023-02-15
PY - 2016/2/1
Y1 - 2016/2/1
N2 - 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.
AB - 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.
UR - http://www.scopus.com/inward/record.url?scp=84957588017&partnerID=8YFLogxK
M3 - Article
SN - 1029-2977
VL - 19
SP - 87
EP - 91
JO - Archives of Iranian Medicine
JF - Archives of Iranian Medicine
IS - 2
ER -