Affiliation: Institut Pasteur
- A missense mutation in the alphaB-crystallin chaperone gene causes a desmin-related myopathyP Vicart
Institut Pasteur, Paris, France
Nat Genet 20:92-5. 1998..These results are the first to identify a defect in a molecular chaperone as a cause for an inherited human muscle disorder...
- Human desmin gene: cDNA sequence, regional localization and exclusion of the locus in a familial desmin-related myopathyP Vicart
Universite Paris VII, Paris, France
Hum Genet 98:422-9. 1996..These results suggest that the desmin gene is not primarily involved in this disease...
- Structural and functional analysis of a new desmin variant causing desmin-related myopathyB Goudeau
Laboratoire Cytosquelette et Développement, UMR CNRS 7000, Faculte de Medecine, Paris, France
Hum Mutat 18:388-96. 2001..We conclude that Q389P mutation is the molecular event leading to the development of desmin-related myopathy...
- Electron microscopy in myofibrillar myopathies reveals clues to the mutated geneK G Claeys
Institut de Myologie, Groupe Hospitalier Pitie Salpetriere, 47 83, Boulevard de l Hopital, 75651 Paris, Cedex 13, France
Neuromuscul Disord 18:656-66. 2008..We conclude that MFMs ultrastructural findings can direct diagnostic efforts towards the causal gene mutated, and that EM should be included in the diagnostic workup of MFMs...
- Myofibrillar (desmin-related) myopathy: clinico-pathological spectrum in 3 cases and review of the literatureJ Wanschit
Institute of Neurology, University of Vienna, Austria
Clin Neuropathol 21:220-31. 2002..The morphologic denominator of hyaline structures and areas of myofibrillar destruction occurs in heterogeneous conditions and may overlap with features of inclusion body myopathy and mitochondrial myopathy...
- Desmin myopathyL G Goldfarb
National Institutes of Health, Bethesda, MD 20892 1361, USA
Brain 127:723-34. 2004..Better understanding of disease pathogenesis would stimulate research focused on developing specific treatments for these conditions...