CASE REPORT: UNUSUAL PRESENTATION OF MITOCHONDRIO PATHIES

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ETEMADI M.M.; AZARPAZHOUH M.R.

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Journal: Current Journal of Neurology Year:2003 | Volume:3 | Issue:7 Page(s): 1-8

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Title

CASE REPORT: UNUSUAL PRESENTATION OF MITOCHONDRIO PATHIES

Author(s)

ETEMADI M.M. | AZARPAZHOUH M.R. | Issue Writer Certificate

Keywords

MITOCHONDRIOPATHYQ4

PROGRESSIVE EXTERNAL OPHTHALMOPLAGINQ4

Abstract

A 23 years old female was referred to the Gheam medical center and admitted in the ICD and then in Neurology ward. She was a thing girl that has been suffering from progressive external ophtalmoplegia from age 13. Clinical manifestations include ptosis, restriction of ocular movement, retinitis pigmentosa, myopathy and neuropaty, increased bowel sounds, nausea and systolic heart murmur in the left sternal border. Paraclinical findings include increaed FBS, decreased parathormone, chronic compensated hypercapnea, VSD and valvular disorders and myogenic and neuragenic changes in electrodiagnositc exams. There is family history of the same disorder with maternal inheritance and her brother had exactly the same disease with cataract. All findings are not compatible with the known mitochondrial syndrome so it could be considered as a new unusual form of mitochondrial disorder.

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APA: Copy

ETEMADI, M.M., & AZARPAZHOUH, M.R.. (2003). CASE REPORT: UNUSUAL PRESENTATION OF MITOCHONDRIO PATHIES. CURRENT JOURNAL OF NEUROLOGY (IRANIAN JOURNAL OF NEUROLOGY), 3(7), 1-8. SID. https://sid.ir/paper/102753/en

Vancouver: Copy

ETEMADI M.M., AZARPAZHOUH M.R.. CASE REPORT: UNUSUAL PRESENTATION OF MITOCHONDRIO PATHIES. CURRENT JOURNAL OF NEUROLOGY (IRANIAN JOURNAL OF NEUROLOGY)[Internet]. 2003;3(7):1-8. Available from: https://sid.ir/paper/102753/en

IEEE: Copy

M.M. ETEMADI, and M.R. AZARPAZHOUH, “CASE REPORT: UNUSUAL PRESENTATION OF MITOCHONDRIO PATHIES,” CURRENT JOURNAL OF NEUROLOGY (IRANIAN JOURNAL OF NEUROLOGY), vol. 3, no. 7, pp. 1–8, 2003, [Online]. Available: https://sid.ir/paper/102753/en

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