Two novel missense mutations in FGD4/FRABIN cause Charcot-Marie-Tooth type 4H (CMT4H)-Reference-Cited by-同舟云学术

Two novel missense mutations in FGD4/FRABIN cause Charcot-Marie-Tooth type 4H (CMT4H)

Published:2012-06 Issue:2 Volume:17 Page:141-146
ISSN:1085-9489
Container-title:Journal of the Peripheral Nervous System
language:en
Short-container-title:

Author:

Baudot Cécile,Esteve Clothilde,Castro Christel,Poitelon Yannick,Mas Camille,Hamadouche Tarik,El-Rajab Maryam,Lévy Nicolas,Megarbané André,Delague Valérie

Publisher

Wiley

Subject

Neurology (clinical),General Neuroscience

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1529-8027.2012.00405.x/fullpdf

Reference19 articles.

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2. Simultaneous MFN2 and GDAP1 mutations cause major mitochondrial defects in a patient with CMT.;Cassereau;Neurology,2011

3. Homozygosity mapping of autosomal recessive demyelinating Charcot-Marie-Tooth neuropathy (CMT4H) to a novel locus on chromosome 12p11.21-q13.11.;De Sandre-Giovannoli;J Med Genet,2005

4. Mutations in FGD4 encoding the Rho GDP/GTP exchange factor FRABIN cause autosomal recessive Charcot-Marie-Tooth type 4H.;Delague;Am J Hum Genet,2007

5. Rho GTPases in cell biology.;Etienne-Manneville;Nature,2002

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