Mots-clés
 > MYOBASE > SANTE > médecine > maladie > maladie par appareil > maladie de l'appareil locomoteur > maladie neuromusculaire > maladie neuromusculaire par protéine > mitofusine (maladie neuromusculaire liée à) > CMT2A2
CMT2A2
Commentaire :
ORPHA 99947
MIM 609260 - Transmission autosomique dominante. - Mutation ou délétion dans le gène MFN2, localisé sur le chromosome 1 (région 1p32-p36) et codant la protéine mitofusine, protéine de fusion des mitochondries Sources : ORPHANET, OMIM Principales maladies neuromusculaires, Fiche Technique Savoir et Comprendre, AFM , septembre 2012, 6ème édition Avancées médico-scientifiques neuromusculaires, Fiche Technique Savoir et Comprendre, AFM, octobre 2012, 5ème édition Synonyme(s)CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A2 ;HEREDITARY MOTOR AND SENSORY NEUROPATHY IIA2 ;HMSN2A2 ;maladie de Charcot-Marie-Tooth axonale de type 2A2 ;NSMHIIA2 ;CMT 2A2 ;MIM 609260 ;ORPHA 99947 ;CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A2 ;CHARCOT-MARIE-TOOTH DISEASE, NEURONAL, TYPE 2A2 ;CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2A2 HMSN IIA2Voir aussi |
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Structural insights of human mitofusin-2 into mitochondrial fusion and CMT2A onset
Li YJ, Cao YL, Feng JX, et al.
Nature communications, 2019, 10, 1
Severe cognitive impairment in a patient with CMT2A
Tomaselli PJ, Kapoor M, Cortese A, et al.
Journal of the peripheral nervous system : JPNS, 2018
Structure, function, and regulation of mitofusin-2 in health and disease
Chandhok G, Lazarou M, Neumann B
Biological reviews of the Cambridge Philosophical Society, 2018, 93, 2, p 933
Charcot-Marie-Tooth disease type 2A with an autosomal-recessive inheritance: the first report of an adult-onset disease
Hikiami R, Yamashita H, Koita N, et al.
Journal of human genetics, 2018, 63, 1, p 89
Characterization of Charcot-Marie-Tooth optic neuropathy
Botsford B, Vuong LN, Hedges Iii TR, et al.
Journal of neurology, 2017, 264, 12, p 2431
Myology 2016 : 5th International Congress of Myology ; Posters n° 27 to 49 - Animal models
Congrès : 5th International Congress of Myology (14-18 March 2016; Centre convention, Lyon, France)
2016, p. 37-47
Zebrafish Tg(hb9:MTS-Kaede): a new in vivo tool for studying the axonal movement of mitochondria
Bergamin G, Cieri D, Vazza G, et al.
Biochimica et biophysica acta, 2016, 1860, 6, p 1247
Phenotypic Variability of Childhood Charcot-Marie-Tooth Disease
Cornett KM, Menezes MP, Bray P, et al.
JAMA Neurology, 2016, Epub, 7 p.
Increased mitochondrial fusion in a autosomal recessive CMT2A family with mitochondrial GTPase mitofusin 2 mutations
Codron P, Chevrollier A, Kane MS, et al.
Journal of the peripheral nervous system : JPNS, 2016, 21, 4, p 365
Mitochondrial fusion/fission dynamics in neurodegeneration and neuronal plasticity
Bertholet AM, Delerue T, Millet AM, et al.
Neurobiology of disease, 2016, 90, p 3
Clinical and allelic heterogeneity in a pediatric cohort of 11 patients carrying MFN2 mutation
Di Meglio C, Bonello-Palot N, Boulay C, et al.
Brain & development, 2015, 38, 5, p 498
Colloque Jeunes Chercheurs : Actes de colloque 12 Juin 2015 Paris
Collectif
AFM-TELETHON, 2015, 97 p
Charcot-Marie-Tooth Disease Type 2A: From Typical to Rare Phenotypic and Genotypic Features
Bombelli F, Stojkovic T, Dubourg O, et al.
JAMA Neurology, 2014, 71, 8, p 1036
Proximal nerve magnetization transfer MRI relates to disability in Charcot-Marie-Tooth diseases
Dortch RD, Dethrage LM, Gore JC, et al.
Neurology, 2014, 83, 17, p 1545
Charcot-Marie-Tooth disease subtypes and genetic testing strategies
Saporta ASD, Sottile SL, Miller LJ, et al.
Annals of neurology, 2011, 69, 1, p. 22-33
MFN2 mutations cause severe phenotypes in most patients with CMT2A
Feely SME, Laura M, Siskind CE, et al.
Neurology, 2011, 76, 20, p. 1690-1696
Mitofusin 2 is necessary for transport of axonal mitochondria and interacts with the Miro/Milton complex
Misko A, Jiang S, Wegorzewska I, et al.
Journal of neuroscience (The), 2010, 30, 12, p. 4232-4240
Adenine nucleotide translocase is involved in a mitochondrial coupling defect in MFN2-related Charcot-Marie-Tooth type 2A disease
Guillet V, Gueguen N, Verny C, et al.
Neurogenetics, 2010, 11, 1, p. 127-133
Anomalies ultrastructurales des mitochondries axonales chez des patients atteints de formes précoces de maladie de Charcot-Marie-Tooth dues à des mutations de la mitofusine 2
Funalot B, Magdelaine C, Sturtz F, et al.
Bulletin de l'Académie nationale de médecine, 2009, 193, 1, p. 151-161
Role of mitofusin 2 mutations in the physiopathology of Charcot-Marie-Tooth disease type 2A
Cartoni R, Martinou JC
Experimental neurology, 2009, 218, 2, p. 268-273
Charcot-Marie-Tooth disorders with an autosomal recessive mode of inheritance
Kabzinska D, Hausmanowa-Petrusewicz I, Kochanski A
Clinical neuropathology, 2008, 27, 1, p. 1-12
