Expanding the phenotype of IBA57 mutations: related leukodystrophy can remain asymptomatic
Expanding the phenotype of IBA57 mutations: related leukodystrophy can remain asymptomatic
About this item
Full title
Author / Creator
Hamanaka, Kohei , Miyatake, Satoko , Zerem, Ayelet , Lev, Dorit , Blumkin, Luba , Yokochi, Kenji , Fujita, Atsushi , Imagawa, Eri , Iwama, Kazuhiro , Nakashima, Mitsuko , Mitsuhashi, Satomi , Mizuguchi, Takeshi , Takata, Atsushi , Miyake, Noriko , Saitsu, Hirotomo , van der Knaap, Marjo S. , Lerman-Sagie, Tally and Matsumoto, Naomichi
Publisher
England: Nature Publishing Group
Journal title
Language
English
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Publication information
Publisher
England: Nature Publishing Group
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More information
Scope and Contents
Contents
Biallelic mutations in IBA57 cause a mitochondrial disorder with a broad phenotypic spectrum that ranges from severe intellectual disability to adolescent-onset spastic paraplegia. Only 21 IBA57 mutations have been reported, therefore the phenotypic spectrum of IBA57-related mitochondrial disease has not yet been fully elucidated. In this study, we...
Alternative Titles
Full title
Expanding the phenotype of IBA57 mutations: related leukodystrophy can remain asymptomatic
Authors, Artists and Contributors
Author / Creator
Miyatake, Satoko
Zerem, Ayelet
Lev, Dorit
Blumkin, Luba
Yokochi, Kenji
Fujita, Atsushi
Imagawa, Eri
Iwama, Kazuhiro
Nakashima, Mitsuko
Mitsuhashi, Satomi
Mizuguchi, Takeshi
Takata, Atsushi
Miyake, Noriko
Saitsu, Hirotomo
van der Knaap, Marjo S.
Lerman-Sagie, Tally
Matsumoto, Naomichi
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_proquest_miscellaneous_2113283381
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_2113283381
Other Identifiers
ISSN
1434-5161
E-ISSN
1435-232X
DOI
10.1038/s10038-018-0516-x
