Clinical Spectrum of Proximal Myotonic Myopathy (PROMM) Syndrome

Abstract

We studied 25 patients with proximal myotonic myopathy (PROMM) from 3 unrelated kindreds and present data on the clinical spectrum of this syndrome. Our data show that phenotypic expression and degree of multisystem involvement may vary widely between and within kindreds. In conclusion our results suggest clinical and genetic heterogeneity of PROMM… (More)

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