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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
medicine
Phenotype genotype analysis in 15 patients presenting a congenital myasthenic syndrome due to mutations in DOK7
Journal of Neurology, Volume 257, No. 5, Year 2010
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Description
Congenital myasthenic syndromes (CMSs) are a heterogeneous group of diseases caused by genetic defects affecting neuromuscular transmission. Mutations of DOK7 have recently been described in recessive forms of CMS. Dok-7 is a cytoplasmic post-synaptic protein coactivator of the muscle-specific receptor-tyrosine kinase (MuSK) involved in neuromuscular synaptogenesis and maintenance. We report clinical, morphological and molecular data on 15 patients with mutations in DOK7. Eleven different mutations (5 novel) were identified and all patients but one were found to carry at least the common c.1124-1127dupTGCC mutation. Patients with DOK7 mutations have a particular limb-girdle pattern, without tubular aggregates but a frequent lipidosis on the muscle biopsy. Changes in pre-and post-synaptic compartments of the neuromuscular junction were also observed in muscle biopsies: terminal axons showed defective branching which resulted in a unique terminal axon contacting en passant postsynaptic cups. Clinical features, muscle biopsy findings or response to therapy were confusing in several patients. Characterization of this distinct phenotype is essential to provide clues for targeted genetic screening and to predict the therapeutic response to anticholinesterase treatments or ephedrine as has been suggested. © 2009 Springer-Verlag.
Authors & Co-Authors
Ammar, A. Ben
Tunisia, Tunis
Institut National de Neurologie Mongi-ben Hamida
France, Paris
Hôpital Universitaire Pitié Salpêtrière
Petit, François M.
France, Paris
Ap-hp Assistance Publique - Hopitaux de Paris
Alexandri, Nektaria
France, Paris
Hôpital Universitaire Pitié Salpêtrière
France, Paris
Ap-hp Assistance Publique - Hopitaux de Paris
Gaudon, Karen
France, Paris
Hôpital Universitaire Pitié Salpêtrière
Bauché, Stéphanie
France, Paris
Hôpital Universitaire Pitié Salpêtrière
Rouche, Andreée
France, Paris
Hôpital Universitaire Pitié Salpêtrière
Gras, D.
France, Paris
Hôpital Universitaire Pitié Salpêtrière
Fournier, Emmanuel
France, Paris
Hôpital Universitaire Pitié Salpêtrière
Koenig, Jeanine
France, Paris
Hôpital Universitaire Pitié Salpêtrière
Stojkovic, Tanya
France, Paris
Ap-hp Assistance Publique - Hopitaux de Paris
Lacour, A.
France, Bordeaux
Université de Bordeaux
Petiot, Philippe
France, Lille
Chu Lille
Zagnoli, Fabien
France, Lyon
Hopital de la Croix-rousse
Viollet, Louis
France, Brest
Hôpital D'instruction Des Armées Clermont Tonnerre
Pellegrini, N.
France, Garches
Hopital Raymond Poincare
Orlikowski, David
France, Garches
Hopital Raymond Poincare
Lazaro, Leila
France, Rennes
Centre Hospitalier Universitaire de Rennes
Ferrer, X.
France, Pessac
Hopital Haut-lévêque C.h.u de Bordeaux
Stoltenburg, G.
France, Paris
Hôpital Universitaire Pitié Salpêtrière
Paturneau-Jouas, M.
France, Paris
Hôpital Universitaire Pitié Salpêtrière
Hentati, F. F.
Tunisia, Tunis
Institut National de Neurologie Mongi-ben Hamida
Fardeau, Michael
France, Paris
Hôpital Universitaire Pitié Salpêtrière
Sternberg, Damien
France, Paris
Hôpital Universitaire Pitié Salpêtrière
Hantaï, Daniel
France, Paris
Hôpital Universitaire Pitié Salpêtrière
Richard, Pascale
France, Paris
Hôpital Universitaire Pitié Salpêtrière
Eymard, Bruno
France, Paris
Hôpital Universitaire Pitié Salpêtrière
France, Paris
Ap-hp Assistance Publique - Hopitaux de Paris
Statistics
Citations: 69
Authors: 26
Affiliations: 10
Identifiers
Doi:
10.1007/s00415-009-5405-y
ISSN:
03405354
e-ISSN:
14321459
Research Areas
Cancer
Genetics And Genomics