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Delayed gyration with pontocerebellar hypoplasia type 1

โœ Scribed by Tohru Okanishi; Yuka Mori; Kenji Shirai; Satoru Kobayashi; Hideyuki Nakashima; Tetsuya Kibe; Kenji Yokochi; Hajime Togari; Ikuya Nonaka

Book ID
113498744
Publisher
Elsevier Science
Year
2010
Tongue
English
Weight
246 KB
Volume
32
Category
Article
ISSN
0387-7604

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## Abstract Six subtypes of autosomal recessive pontocerebellar hypoplasia (PCH) have been identified and the genetic basis of four of these (PCH1, PCH2, PCH4, and PCH6) is known. PCH6 is associated with cerebral atrophy and multiple but variable respiratory chain defects in muscle and has been rep