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Iranian Journal of Public Health، جلد ۴۹، شماره ۳، صفحات ۵۸۸-۵۹۲
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عنوان انگلیسی Report of a Patient with Multiple Mutations Leading to Charcot-Marie-Tooth Disease and Distal Spinal Muscular Atrophy: A Case Report
چکیده انگلیسی مقاله The Charcot-Marie-Tooth disease is a group of progressive disorders that affects the peripheral nerves and results in loss of sensation and atrophy of muscles in lower limbs. There are several types of Charcot-Marie-Tooth and multiple genes are associated with this disease. Distal spinal muscular atrophy is an extremely rare disorder characterized by progressive pure lower motor neuron involvement. A 24 yr old woman using wheelchair referred to Farhud Genetic Clinic, Tehran, Iran in 2019, with progressive muscular atrophy, pain and Electromyography test suggesting Charcot-Marie-tooth. Both feet and hands were involved. Whole exome sequencing was performed on extracted DNA from her blood sample. We report the first case of a patient with different types of Charcot-Marie-Tooth and distal spinal muscular atrophy simultaneously, which are as a result of mutations in multiple genes; this case is very uncommon.
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نویسندگان مقاله | Atefeh MEHRABI
School of Advanced Medical Sciences, Tehran Medical Branch, Islamic Azad University, Tehran, Iran Farhud Genetic Clinic, Tehran, Iran


| Dariush D. FARHUD
1. Farhud Genetic Clinic, Tehran, Iran 2. Department of Basic Sciences/Ethics, Iranian Academy of Medical Sciences, Tehran, Iran


| Karim NAYERNIA
International Center for Personalized Medicine (ICPM P7MEDICINE), Medical Center Düsseldorf, Düsseldorf, Germany


| Hossein SADIGHI
Farhud Genetic Clinic, Tehran, Iran


| Marjan ZARIF-YEGANEH
1. Farhud Genetic Clinic, Tehran, Iran 2. Cellular and Molecular Endocrine Research Center, Research Institute for Endocrine Sciences, Shahid Beheshti University of Medical Sciences, Tehran, Iran
نشانی اینترنتی http://ijph.tums.ac.ir/index.php/ijph/article/view/19922
فایل مقاله اشکال در دسترسی به فایل - ./files/site1/rds_journals/86/article-86-2305618.pdf
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