REPORT OF A CASE WITH KEARNS-SAYRE SYNDROME: A KIND OF MITOCHONDRIAL MYOPATHY

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SHAKOURI K.; KHANDAGI R.; KIANMEHR A.

مرکز اطلاعات علمی Scientific Information Database (SID) - Trusted Source for Research and Academic Resources

Journal Paper

Paper Information

Journal: MEDICAL JOURNAL OF TABRIZ UNIVERSITY OF MEDICAL SCIENCES Year:2004 | Volume:38 | Issue:64 Page(s): 76-78

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Title

REPORT OF A CASE WITH KEARNS-SAYRE SYNDROME: A KIND OF MITOCHONDRIAL MYOPATHY

Author(s)

SHAKOURI K. | KHANDAGI R. | KIANMEHR A. | Issue Writer Certificate

Keywords

MYOPATHYQ2

MITOCHONDRIALQ4

PTOSISQ4

DEAFNESSQ2

Abstract

A 14-year-old male presented with the chief complaint of bilateral progressive PTOSIS, which began approximately two years ago. He gradually felt weakness in his limbs. Initially, there were some differential diagnoses, such as spinal muscular atrophy (SMA) with bulbar involvement, neuromuscular junction problems, and some myopathies like myotonic with proximal predilection (proximal myotonic MYOPATHY). With electrodiagnostic study, we ruled out these diagnoses. Kearns-Sayre syndrome (KSS) is a rare MYOPATHY and usually presents with other systemic signs and symptoms, which should be considered as a differential diagnosis in all cases with MYOPATHY and PTOSIS.

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APA: Copy

SHAKOURI, K., KHANDAGI, R., & KIANMEHR, A.. (2004). REPORT OF A CASE WITH KEARNS-SAYRE SYNDROME: A KIND OF MITOCHONDRIAL MYOPATHY. MEDICAL JOURNAL OF TABRIZ UNIVERSITY OF MEDICAL SCIENCES, 38(64), 76-78. SID. https://sid.ir/paper/46881/en

Vancouver: Copy

SHAKOURI K., KHANDAGI R., KIANMEHR A.. REPORT OF A CASE WITH KEARNS-SAYRE SYNDROME: A KIND OF MITOCHONDRIAL MYOPATHY. MEDICAL JOURNAL OF TABRIZ UNIVERSITY OF MEDICAL SCIENCES[Internet]. 2004;38(64):76-78. Available from: https://sid.ir/paper/46881/en

IEEE: Copy

K. SHAKOURI, R. KHANDAGI, and A. KIANMEHR, “REPORT OF A CASE WITH KEARNS-SAYRE SYNDROME: A KIND OF MITOCHONDRIAL MYOPATHY,” MEDICAL JOURNAL OF TABRIZ UNIVERSITY OF MEDICAL SCIENCES, vol. 38, no. 64, pp. 76–78, 2004, [Online]. Available: https://sid.ir/paper/46881/en

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