Calpain 3 deficiency is associated with myonuclear apoptosis and profound perturbation of the IκBα/NF-κB pathway in limb-girdle muscular dystrophy type 2A

Author:

Baghdiguian Stephen,Martin Marianne,Richard Isabelle,Pons Françoise,Astier Catherine,Bourg Nathalie,Hay Ronald T.,Chemaly Raymond,Halaby Georges,Loiselet Jacques,Anderson Louise V. B.,Munain Adolfo Lopez de,Fardeau Michel,Mangeat Paul,Beckmann Jacques S.,Lefranc Gérard

Publisher

Springer Science and Business Media LLC

Subject

General Biochemistry, Genetics and Molecular Biology,General Medicine

Reference39 articles.

1. Fardeau, M. et al. Juvenile limb-girdle muscular dystrophy: clinical, histopathological and genetic data on a small community living in the Reunion Island. Brain 119, 295–308 ( 1996).

2. Bushby, K.M.D. & Beckmann, J.S. Report of the 30 and 31st ENMC international workshop of the LGMDs - Proposal for a new nomenclature. Neuromusc. Disord. 5, 337– 343 (1995).

3. Beckmann, J.S. & Fardeau, M. in Neuromuscular Disorder: Clinical and Molecular Genetic Ch. 6 (ed. Emery, A.E.H.) 123– 156 (John Wiley and sons, Chichester, UK, (1998).

4. Richard, I. et al. Mutations in the proteolytic enzyme calpain 3 cause limb-girdle muscular dystrophy type 2A. Cell 81, 27– 40 (1995).

5. Richard, I. et al. Multiple independent molecular etiology for limb-girdle muscular dystrophy type 2A patients from various geographical origins. Am. J. Hum. Genet. 60, 1128–1138 (1997).

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