Motor Neuron Syndrome as a New Phenotypic Manifestation of Mutation 9185T>C in Gene MTATP6
المؤلفون المشاركون
Brum, Marisa
Semedo, Cristina
Guerreiro, Rui
Pinto Marques, José
المصدر
Case Reports in Neurological Medicine
العدد
المجلد 2014، العدد 2014 (31 ديسمبر/كانون الأول 2014)، ص ص. 1-4، 4ص.
الناشر
Hindawi Publishing Corporation
تاريخ النشر
2014-12-08
دولة النشر
مصر
عدد الصفحات
4
التخصصات الرئيسية
الملخص EN
The mutation 9185T>C in ATP6 gene, associated with Leigh syndrome, was reported in only few families.
Motor neuron disease (MND), both clinically and electrophysiologically, was not previously described in association with this mutation.
Case Report.
33-year-old male, with family history of mitochondrial disease, presented with cognitive impairment, exercise intolerance, and progressive muscle weakness.
Examination revealed global hypotonia, and proximal tetraparesis, without atrophy or fasciculation, pyramidal signs, or sensory symptoms.
The laboratory findings revealed an increase of lactate and lactate/pyruvate ratio; electromyogram showed chronic neurogenic compromise; muscle biopsy was suggestive of spinal muscular atrophy and mitochondriopathy; genetic study of SMN1 was negative but detected a homoplasmic mutation 9185T>C in ATP6 gene.
His younger sister, with the same mutation, had cognitive impairment, ataxia, and muscle weakness.
EMG showed axonal peripheral neuropathy.
Conclusion.
This case is unique because of the benignity and the coexistence of clinical, neurophysiological, and pathological findings suggestive of MND that, although described in mitochondrial disease, have not yet been reported in association with 9185T>C mutation.
The present case contributes to the expansion of the phenotypic expressions of this particular mutation.
نمط استشهاد جمعية علماء النفس الأمريكية (APA)
Brum, Marisa& Semedo, Cristina& Guerreiro, Rui& Pinto Marques, José. 2014. Motor Neuron Syndrome as a New Phenotypic Manifestation of Mutation 9185T>C in Gene MTATP6. Case Reports in Neurological Medicine،Vol. 2014, no. 2014, pp.1-4.
https://search.emarefa.net/detail/BIM-1017309
نمط استشهاد الجمعية الأمريكية للغات الحديثة (MLA)
Brum, Marisa…[et al.]. Motor Neuron Syndrome as a New Phenotypic Manifestation of Mutation 9185T>C in Gene MTATP6. Case Reports in Neurological Medicine No. 2014 (2014), pp.1-4.
https://search.emarefa.net/detail/BIM-1017309
نمط استشهاد الجمعية الطبية الأمريكية (AMA)
Brum, Marisa& Semedo, Cristina& Guerreiro, Rui& Pinto Marques, José. Motor Neuron Syndrome as a New Phenotypic Manifestation of Mutation 9185T>C in Gene MTATP6. Case Reports in Neurological Medicine. 2014. Vol. 2014, no. 2014, pp.1-4.
https://search.emarefa.net/detail/BIM-1017309
نوع البيانات
مقالات
لغة النص
الإنجليزية
الملاحظات
Includes bibliographical references
رقم السجل
BIM-1017309
قاعدة معامل التأثير والاستشهادات المرجعية العربي "ارسيف Arcif"
أضخم قاعدة بيانات عربية للاستشهادات المرجعية للمجلات العلمية المحكمة الصادرة في العالم العربي
تقوم هذه الخدمة بالتحقق من التشابه أو الانتحال في الأبحاث والمقالات العلمية والأطروحات الجامعية والكتب والأبحاث باللغة العربية، وتحديد درجة التشابه أو أصالة الأعمال البحثية وحماية ملكيتها الفكرية. تعرف اكثر