Abstract
The peculiar phenotype caused by the combination of muscle wasting and prominent spinal rigidity was first proposed by Dubowitz (1965, 1973) and termed “rigid spine syndrome.” Rigid spine syndrome (RSS) is also a heterogenous disease with a broad spectrum of skeletal and muscular disorders and a prominent feature in the X-linked, autosomal dominant, and/or autosomal recessive forms of Emery–Dreifuss muscular dystrophy (Emery 1987), nemaline (Topaloglu et al. 1994), and other congenital myopathies (Reichmann et al. 1997).
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Chen, H. (2017). Rigid Spine Syndrome. In: Atlas of Genetic Diagnosis and Counseling. Springer, New York, NY. https://doi.org/10.1007/978-1-4939-2401-1_204
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DOI: https://doi.org/10.1007/978-1-4939-2401-1_204
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