A CASE OF FALSE MULTIPLE SCLEROSIS DIAGNOSIS IN A FAMILY WITH MYOTONIC DYSTROPHY
Rim Valeevich Маgzhanov , Еlena Vladimirovna Saifullina , Regina Rinatovna Мukhametova , Ravil Rashidovich Мukhamedrahimov
Neurology Bulletin ›› 2010, Vol. XLII ›› Issue (4) : 91 -93.
A CASE OF FALSE MULTIPLE SCLEROSIS DIAGNOSIS IN A FAMILY WITH MYOTONIC DYSTROPHY
There was shown a case of clinical supervision in the family with myotonic dystrophy (МД1, 19q13.2-13.3). One of the family members had been falsely made the diagnosis of NS demielinizing disease.
myotonic dystrophy / magnetic resonance tomography / multiple sclerosis
| [1] |
1. Магжанов, Р.В. Территориальное распределение миотонической дистрофии в республике Башкортостан / Р.В. Магжанов, Л.Р. Ахмадеева / Сб. научн. тр. Республиканской клинической больницы имени Г.Г. Куватова. - Уфа, 1999. - С. 121-122. |
| [2] |
2. Akiguchi, I. Brain Proton Magnetic Resonance Spectroscopy and Brain Atrophy in Myotonic Dystrophy / I. Akiguchi, S. Nakano, A. Shiino et al. // Arch. Neurol. - 1999. - Vol. 56. - P. 325-330. |
| [3] |
3. Antonini, G. Cerebral atrophy in myotonic dystrophy: a voxel based morphometric study/ G. Antonini, C. Mainero, A.Romano et al. // J. Neurol Neurosurg Psychiatry. - 2004. - Vol. 75. -P. 1611-1613. |
| [4] |
4. Brook, J.D. Molecular basis of myotonic dystrophy: expansion of a trinuc-leotide (CTG) repeat at the 3' end of a transcript encoding a protein kinase family member / J.D. Brook, M.E. McCurrach, H.G. Harley et al. // Cell. - 1992. - Vol. 68. - P. 799-808. |
| [5] |
5. Chang, L. Cerebral abnormalities in myotonic dystrophy. Cerebral blood flow, magnetic resonance imaging, and neuropsychological tests // L. Chang, T. Anderson, O. Migneco et al. /Arch. Neurol. - 1993. - Vol. 50, №9. - P. 917-923. |
| [6] |
6. Davies, J.D. Comparison of the myotonic dystrophy associated CTG repeat in European and Japanese populations / J. Davies, H.Yamagata, P. Shelbourne et al.// J. Med. Genet. - 1992. - Vol. 9. - P. 766-769. |
| [7] |
7. Harper, P.S. Myotonic Dystrophy. 3nd ed. - London, England: WB Saunders Co, 2001. |
| [8] |
8. Huber, S. Magnetic Resonance imaging and clinical correlates of intellectual impairment in myotonic dystrophy / S. Huber, J. Kissel, E. Shuttleworth et al. // Arch. Neurol. - 1989. - Vol. 46. - P. 536-540. |
Маgzhanov R.V., Saifullina Е.V., Мukhametova R.R., Мukhamedrahimov R.R.
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