A Japanese case of cerebellar ataxia, spastic paraparesis and deep sensory impairment associated with a novel homozygous TTC19 mutation (Q30887594)

27 June 2017

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title

A Japanese case of cerebellar ataxia, spastic paraparesis and deep sensory impairment associated with a novel homozygous TTC19 mutation (English)

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27 June 2017

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Atsuko Tomita-Katsumoto

object named as

Atsuko Tomita-Katsumoto

7

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Yoshinori Tsurusaki

object named as

Yoshinori Tsurusaki

13

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Hirotomo Saitsu

object named as

Hirotomo Saitsu

15

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author name string

Misako Kunii

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27 June 2017

Hiroshi Doi

2

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Yuichi Higashiyama

3

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Chiharu Kugimoto

4

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Naohisa Ueda

5

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Junichi Hirata

6

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Mari Kashikura-Kojima

8

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Shun Kubota

9

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Midori Taniguchi

10

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Kei Murayama

11

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Mitsuko Nakashima

12

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Noriko Miyake

14

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Naomichi Matsumoto

16

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Fumiaki Tanaka

17

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27 June 2017

publication date

5 February 2015

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Journal of Human Genetics

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published in

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volume

60

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issue

4

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page(s)

187-191

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On the mechanism of electron transfer in complex iii of the electron transfer chain

27 June 2017

cites work

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Novel TTC19 mutation in a family with severe psychiatric manifestations and complex III deficiency

21 January 2018

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Exome sequencing reveals a novel TTC19 mutation in an autosomal recessive spinocerebellar ataxia patient

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A deletion in the human QP-C gene causes a complex III deficiency resulting in hypoglycaemia and lactic acidosis

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PubMed

https://pubmed.ncbi.nlm.nih.gov/25652355

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Exercise intolerance due to mutations in the cytochrome b gene of mitochondrial DNA

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PubMed

https://pubmed.ncbi.nlm.nih.gov/25652355

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1038/JHG.2015.7

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27 June 2017

1 reference