Abstract
There is evidence that the availability of molecular diagnostic tools has expanded our recognition of the phenotypic expression of muscle disorders. The pseudometabolic expression of dystrophinopathies is now well regognized [1, 2]. Besides dystrophinopathies, other well characterized muscular dystrophies can cause exercice intolerance, as we observed in one patient with limb girdle muscular dystrophy type 2A related to calpain3 mutations [3] and in two siblings affected by an a-sarcoglycanopathy [4].
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References
Doriguzzi C, Palmucci L, Mongini T, Chiado-Piat, Restano G, Ferrone M (1993) Exercise intolerance and recurrent myoglobinuria as the only expression of Xp2.1 Becker type muscular dystrophy. J Neurol 240:269–271
Figarella-Branger D, Baeta Machado AM, Putzu GA, Malzac P, Voelckel MA, Pellissier JF (1997) Exertional rhabdomyolysis and exercice intolerance revealing dystrophinopathies. Acta Neuropathol 94 (1):48–53
Pénisson-Besnier I, Richard I, Dubas F, Beckmann JS, Fardeau M (1998) Pseudometabolic expression and phenotypic variability of calpain deficiency in two siblings. Muscle & Nerve 21:1078–1080
Fardeau M, Tome FMS, Eymard B, Laforet P, Lombes A, Penisson-Besnier I, Richard I, Leturcq F, Beckmann JS, Kaplan JC (1997) Sur l’expression “pseudo-métabolique” des dystrophies musculaires. In: Livre Jubilaire dédié au Pr Gian Carlo Guazzi, Université de Sienne, pp 279–286
Fardeau M, Hillaire D, Mignard C, Feingold N, Feingold J, Mignard D, de Ubeda B, Collin H, Tomé FMS, Richard I, Beckmann J (1996) Juvenile limb-girdle muscular dystrophy. Clinical, histopathological and genetic data from a small community living in the Reunion Island. Brain 119:295–308
Piccolo F, Roberds SL, Jeanpierre M, Leturcq F, Azibi K, Beldjord C, Carrie A, Recan D, Chaouch M, Reghis A, El Kerch F, Sefiani A, Voit T, Merlini L, Collin H, Eymard B, Beckmann JS, Romero NB, Tome FMS, Fardeau M, Campbell KP, Kaplan JC (1995) Primary adhalinopathy: a common cause of autosomal recessive muscular dystrophy of variable severity. Nature Gen 10:243–245
Richard I, Broux O, Allamand V, Fougerousse F, Chainnilkulchai N, Bourg N, Brenguier L, Devaud C, Pasturaud P, Roudaut C, Hillaire D, Passos-Bueno MR, Zatz M, Tischfield JA, Fardeau M, Jackson CE, Cohen D, Beckmann JS (1995) Mutations in the proteolytic enzyme calpain 3 cause limbe-girdle muscular dystrophy type 2A. Cell 81:27–40
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Pénisson-Besnier, I., Richard, I., Dubas, F., Beckmann, J.S., Fardeau, M. (1999). Exercise Intolerance in Calpain Deficiency and in α-Sarcoglycanopathy. In: Serratrice, G., Pouget, J., Azulay, JP. (eds) Exercise Intolerance and Muscle Contracture. Springer, Paris. https://doi.org/10.1007/978-2-8178-0855-0_6
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DOI: https://doi.org/10.1007/978-2-8178-0855-0_6
Publisher Name: Springer, Paris
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