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].
Keywords
- Muscular Dystrophy
- Exercise Intolerance
- Limb Girdle Muscular Dystrophy
- Metabolic Myopathy
- Molecular Diagnostic Tool
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.
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© 1999 Springer-Verlag France
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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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