Tomoyasu Higashimoto on Muck Rack

Tomoyasu Higashimoto

As seen in: Wiley Online Library
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Articles

Atypical Presentation of Congenital Insensitivity to Pain With Anhidrosis Leading to Diagnostic Odyssey

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By Tomoyasu Higashimoto, Martin Garber, Lauren Hipp, Jenna Damon
| Wiley Online Library Verified
1 Introduction Congenital insensitivity to pain with anhidrosis (CIPA) (OMIM 256800) is a rare autosomal-recessive condition also known as hereditary sensory and autonomic neuropathy type IV (HSAN-IV) (Indo 1993). It is due to pathogenic variants in the neurotrophic tyrosine kinase receptor type I (NTRK1) gene (Echaniz-Laguna et al. 2021; Hashimoto et al. 2022; Indo 1993; Li et al. 2021).
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Primary amenorrhea in myotonic dystrophy type 1: Initial presentation versus incidental finding on whole genome sequencing

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By Jenna Damon, Colby Chase, Tomoyasu Higashimoto
| Wiley Online Library Verified
1 INTRODUCTION Myotonic dystrophy type 1 (DM1) due to unstable CTG repeat expansion in the myotonic dystrophy protein kinase (DMPK) gene is an autosomal dominant multisystem disorder (Bird, 1993). It is the most common adult-onset muscular dystrophy (Spaziani et al., 2020; Winters, 2021).
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