Abstract
The term “infantile fiber-type disproportion” was used to describe infants affected by a rapidly progressive weakness with onset after birth and generalized cardiomyopathy with a lethal outcome. Muscle biopsy showed small type 1 fibers and normal-sized type 2 fibers. An abnormal fatty acid metabolism was suspected, since energy requirement of cardiac muscle reflects those of type 1 fibers, but mitochondrial, respiratory chain, PDH complexes, and acylcarnitines were found to be normal. Mutations in the MYL2 gene have been identified in few cases (Table 44.1).
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References
Barth PG, Wanders RJ, Ruitenbeek W, et al. Infantile fibre type disproportion, myofibrillar lysis and cardiomyopathy: a disorder in three Dutch families. Neuromuscul Disord. 1998;8:296–304.
Weterman MA, Barth PG, van Spaendonck-Zwarts KY, Aronica E, Poll-The BT, Brouwer OF, van Tintelen JP, Qahar Z, Bradley EJ, de Wissel M, Salviati L, Angelini C, van den Heuvel L, Thomasse YE, Backx AP, Nürnberg G, Nürnberg P, Baas F. Recessive MYL2 mutations cause infantile type I muscle fibre disease and cardiomyopathy. Brain. 2013;136:282–93.
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Angelini, C. (2018). Congenital Fiber-Type Disproportion. In: Genetic Neuromuscular Disorders. Springer, Cham. https://doi.org/10.1007/978-3-319-56454-8_44
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DOI: https://doi.org/10.1007/978-3-319-56454-8_44
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