Population
2 patients (a father and daughter) with a rigid spine syndrome and proximal myopathy
Design
Case_report
Authors
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May inform differentials for early-onset rigid spine; leaves open genetic basis and prevalence in larger cohorts.
Describes a novel familial mixed congenital myopathy with rigid spine phenotype and complex structural hallmarks.
Reichmann et al. (1997) studied this question.
Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context: