A Novel Mutation inFGD4/FRABINCauses Charcot Marie Tooth Disease Type 4H in Patients from a Consanguineous Tunisian Family-Reference-Cited by-同舟云学术

A Novel Mutation inFGD4/FRABINCauses Charcot Marie Tooth Disease Type 4H in Patients from a Consanguineous Tunisian Family

Published:2013-04-02 Issue:4 Volume:77 Page:336-343
ISSN:0003-4800
Container-title:Annals of Human Genetics
language:en
Short-container-title:Annals of Human Genetics

Author:

Boubaker Chokri¹²³,Hsairi-Guidara Inès⁴,Castro Christel¹²,Ayadi Ines⁴,Boyer Amandine¹²⁵,Kerkeni Emna³,Courageot Joël⁶,Abid Imen⁴,Bernard Rafaëlle¹²⁵,Bonello-Palot Nathalie¹²⁵,Kamoun Fatma⁴,Cheikh Hassen Ben³,Lévy Nicolas¹²⁵,Triki Chahnez⁴,Delague Valérie¹²

Affiliation:

1. Inserm, UMR_S 910; “Génétique Médicale et Génomique Fonctionnelle”, Faculté de Médecine de la Timone; 13385 Marseille France

2. Aix-Marseille University; UMR_S 910, “Génétique Médicale et Génomique Fonctionnelle”, Faculté de Médecine de la Timone; 13385 Marseille France

3. Laboratoire d'Histologie; de Cytologie et de Génétique, Université de Monastir, Faculté de Médecine; Monastir Tunisia

4. Départment de Neurologie Pédiatrique; EPS Hédi Chaker; Sfax Tunisia

5. Département de Génétique Médicale; Hôpital d'Enfants de la Timone; AP-HM Marseille France

6. Aix-Marseille University; Centre de Microscopie électronique et quantitative, Faculté de Médecine de la Timone; 13385 Marseille France

Funder

“Association Française contre les Myopathies” (AFM)

“Agence Universitaire de la Francophonie” (AUF)

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/ahg.12017/fullpdf

Reference24 articles.

1. Mutations in MTMR13, a new pseudophosphatase homologue of MTMR2 and Sbf1, in two families with an autosomal recessive demyelinating form of Charcot-Marie-Tooth disease associated with early-onset glaucoma;Azzedine;Am J Hum Genet,2003

2. Genetic spectrum of hereditary neuropathies with onset in the first year of life;Baets;Brain,2011

3. Two novel missense mutations in FGD4/FRABIN cause Charcot-Marie-Tooth type 4H (CMT4H);Baudot;J Peripher Nerv Syst,2012

4. Ganglioside-induced differentiation-associated protein-1 is mutant in Charcot-Marie-Tooth disease type 4A/8q21;Baxter;Nat Genet,2002

5. Essential and distinct roles for cdc42 and rac1 in the regulation of Schwann cell biology during peripheral nervous system development;Benninger;J Cell Biol,2007

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