Literature DB >> 10483790

Polyneuropathy with minifascicle formation in a patient with 46XY mixed gonadal dysgenesis.

F Umehara1, N Yamaguchi, D Kodama, S Takenaga, T Kiwaki, Y Sonoda, Y Arimura, H Yamada, K Arimura, M Osame.   

Abstract

A patient with mixed gonadal dysgenesis showed glove and stocking-type sensory impairment and slowing of motor and sensory nerve conduction. Sural nerve biopsy revealed minifascicular formation with decreased density of myelinated fibers. As far as we are aware, this is the first report of polyneuropathy with minifascicular formation in 46XY mixed gonadal dysgenesis.

Entities:  

Mesh：

Year:  1999        PMID： 10483790     DOI： 10.1007/s004010051085

Source DB:  PubMed          Journal:  Acta Neuropathol        ISSN： 0001-6322            Impact factor:   17.088


  3 in total

1.  A novel mutation of desert hedgehog in a patient with 46,XY partial gonadal dysgenesis accompanied by minifascicular neuropathy.

Authors:  F Umehara; G Tate; K Itoh; N Yamaguchi; T Douchi; T Mitsuya; M Osame
Journal:  Am J Hum Genet       Date:  2000-10-02       Impact factor: 11.025

2.  A novel, homozygous mutation in desert hedgehog (DHH) in a 46, XY patient with dysgenetic testes presenting with primary amenorrhoea: a case report.

Authors:  Karen M Rothacker; Katie L Ayers; Dave Tang; Kiranjit Joshi; Jocelyn A van den Bergen; Gorjana Robevska; Naeem Samnakay; Lakshmi Nagarajan; Kate Francis; Andrew H Sinclair; Catherine S Choong
Journal:  Int J Pediatr Endocrinol       Date:  2018-03-02

3.  Partial duplication of DHH causes minifascicular neuropathy: A novel mutation detection of DHH.

Authors:  Naoko Saito Sato; Risa Maekawa; Hiroyuki Ishiura; Jun Mitsui; Hiroya Naruse; Shin-Ichi Tokushige; Kazuma Sugie; Genshu Tate; Jun Shimizu; Jun Goto; Shoji Tsuji; Yasushi Shiio
Journal:  Ann Clin Transl Neurol       Date:  2017-05-22       Impact factor: 4.511
  3 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.