Article
A novel mutation in FGD4/FRABIN causes Charcot Marie Tooth disease type 4H in patients from a consanguineous Tunisian family.
Annals of human genetics - 1 Jul 2013
Boubaker Chokri, Hsairi-Guidara Inès, Castro Christel, Ayadi Ines, Boyer Amandine, Kerkeni Emna, Courageot Joël, Abid Imen, Bernard Rafaëlle, Bonello-Palot Nathalie, Kamoun Fatma, Cheikh Hassen Ben, Lévy Nicolas, Triki Chahnez, Delague Valérie
Abstract excerpt
Charcot-Marie-Tooth (CMT) disease constitutes a clinically and genetically heterogeneous group of hereditary neuropathies characterized by progressive muscular and sensory loss in the distal extremities with chronic distal weakness, deformation of the feet, and loss of deep tendon reflexes. CMT4H is an autosomal recessive demyelinating subtype of CMT, due to mutations in FGD4/FRABIN, for which nine mutations are...
Topics
- Adolescent
- Biopsy
- Charcot-Marie-Tooth Disease
- Child
- Consanguinity
- DNA Mutational Analysis
- Female
- Humans
- Male
- Microfilament Proteins