Early onset severe and late-onset mild Charcot-Marie-Tooth disease with mitofusin 2 (MFN2) mutations

Author

CHUNG, K. W¹ ; KIM, S. B² ; KIM, S. H⁸ ; SON, I. H⁹ ; KIM, S. M⁷ ; SUNWOO, I. N⁷ ; CHOI, B. O³ ; PARK, K. D³ ; CHOI, K. G³ ; LEE, J. H⁴ ; EUN, H. W⁵ ; SUH, J. S⁵ ; HWANG, J. H¹ ; KIM, W. K⁶ ; SEO, B. C⁷
[1] Department of Biological Science, Kongju National University, Kongju, Korea, Republic of
[2] Department of Neurology, Kyung Hee University, College of Medicine, Korea, Republic of
[3] Department of Neurology, Ewha Woman's University, College of Medicine, Korea, Republic of
[4] Department of Ophthalmology, Ewha Woman's University, College of Medicine, Korea, Republic of
[5] Radiology and Ewha Medical Research Center, Ewha Woman's University, College of Medicine, Korea, Republic of
[6] Division of Nanosciences, Ewha Woman's University, College of Medicine, Korea, Republic of
[7] Department of Neurology, Yonsei University College of Medicine, Seoul, Korea, Republic of
[8] Department of Pathology, Yonsei University College of Medicine, Seoul, Korea, Republic of
[9] Department of Neurology and INAM Neuroscience Research Center, Wonkwang University, College of Medicine, Gunpo, Korea, Republic of

Source

Brain. 2006, Vol 129, pp 2103-2118, 16 p ; 8 ; ref : 1 p.1/4

ISSN

0006-8950

Scientific domain

Neurology

Publisher

Oxford University Press, Oxford

Publication country

United Kingdom

Document type

Article

Language

English

Author keyword

CMT2A Charcot-Marie-Tooth disease HMSN VI mitofusin 2 (MFN2)

Keyword (fr)

Amyotrophie Charcot Marie Tooth Mutation Système nerveux pathologie Maladie dégénérative Maladie héréditaire Moelle épinière pathologie Neuromusculaire pathologie Système nerveux central pathologie

Keyword (en)

Charcot Marie Tooth disease Mutation Nervous system diseases Degenerative disease Genetic disease Spinal cord disease Neuromuscular diseases Central nervous system disease

Keyword (es)

Amiotrofía Charcot Marie Tooth Mutación Sistema nervioso patología Enfermedad degenerativa Enfermedad hereditaria Médula espinal patología Neuromuscular patología Sistema nervosio central patología

Classification

Pascal

002 Biological and medical sciences / 002B Medical sciences / 002B17 Neurology / 002B17A Nervous system (semeiology, syndromes) / 002B17A03 Headache. Facial pains. Syncopes. Epilepsia. Intracranial hypertension. Brain oedema. Cerebral palsy

Pascal

002 Biological and medical sciences / 002B Medical sciences / 002B17 Neurology / 002B17G Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases

Discipline

Neurology

Origin

Inist-CNRS

Database

PASCAL

INIST identifier

18031989

Sauf mention contraire ci-dessus, le contenu de cette notice bibliographique peut être utilisé dans le cadre d’une licence CC BY 4.0 Inist-CNRS / Unless otherwise stated above, the content of this bibliographic record may be used under a CC BY 4.0 licence by Inist-CNRS / A menos que se haya señalado antes, el contenido de este registro bibliográfico puede ser utilizado al amparo de una licencia CC BY 4.0 Inist-CNRS