Rigid Spine Syndrome
Synonyms and Related Disorders
Congenital muscular dystrophy with spinal rigidity
SEPN1 gene mutations resulting in rigid spine congenital muscular dystrophy were first identified by Moghadaszadeh et al. in (Moghadaszadeh et al. 2001).
Several different forms of autosomal recessive muscle disorders caused by mutations in the SEPN1 gene (Rederstorff et al. 2007)
Congenital muscular dystrophy with spinal rigidity (RSMD1) (Moghadaszadeh et al. 2001)
Multiminicore myopathy (MmD) (Ferreiro et al. 2002)
Desmin-related myopathy with Mallory body-like inclusions (MB-DRM) (Ferreiro et al. 2004)
Congenital fiber-type disproportion myopathy (CFTD) (Clarke et al. 2006)
Share identical clinical features, despite distinctly different...
KeywordsCodon Immobilization Cardiomyopathy Myopathy Dystonia
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- Ferreiro, A., Quijano-Roy, S., Pichereau, C., et al. (2002). Mutations of the selenoprotein N gene, which is implicated in rigid spine muscular dystrophy, cause the classical phenotype of multiminicore disease: Reassessing the nosology of early-onset myopathies. American Journal of Human Genetics, 71, 739–749.PubMedCrossRefGoogle Scholar