Mutations in dynamin 2 cause dominant centronuclear myopathy;Des mutations de la dynamine 2 à l'origine de la forme dominante de la myopathie centronucléaire

Medecine/Sciences

Volumn 22, Issue 2, 2006, Pages 101-102

  Bitoun, Marc ^a   Romero, Norma B ^a   Guicheney, Pascale ^a  

^a INSERM   (France)

Author keywords

[No Author keywords available]

Indexed keywords

DYNAMIN II; GUANOSINE TRIPHOSPHATE; PHOSPHATIDYLINOSITIDE;

AUTOSOMAL DOMINANT INHERITANCE; CENTRONUCLEAR MYOPATHY; GENE MUTATION; GENETIC CODE; GENETIC HETEROGENEITY; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; IN VITRO STUDY; NOTE; X CHROMOSOME;

EID: 32644453754     PISSN: 07670974     EISSN: None     Source Type: Journal    
DOI: 10.1051/medsci/2006222101     Document Type: Note

References (7)

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3. Jeannet PY, Bassez G, Eymard B, et al. Clinical and histologic findings in autosomal centronuclear myopathy. Neurology 2004; 62: 1484-90.
4. Bitoun, M. Maugenre S, Jeannet PY, et al. Mutations in dynamin 2 cause dominant centronuclear myopathy. Nat Genet 2005; 37: 1207-9.
5. Praefcke GJ, McMahon HT. The dynamin superfamily: universal membrane tubulation and fission molecules? Nat Rev Mol Cell Biol 2004; 5: 133-47.
6. Züchner S, Noureddine M, Kennerson, et al. Mutations in the pleckstrin homology domain of dynamin 2 cause dominant intermediate Charcot-Marie-Tooth disease. Nat Genet 2005; 37: 289-94.
7. Thompson H, Cao H, Chen J, et al. Dynamin 2 binds gamma-tubulin and participates in centrosome cohesion. Nat Cell Biol 2004; 6: 335-42.