Expanding the phenotype of IBA57 mutations: related leukodystrophy can remain asymptomatic

Kohei Hamanaka, Satoko Miyatake, Ayelet Zerem, Dorit Lev, Luba Blumkin, Kenji Yokochi, Atsushi Fujita, Eri Imagawa, Kazuhiro Iwama, Mitsuko Nakashima, Satomi Mitsuhashi, Takeshi Mizuguchi, Atsushi Takata, Noriko Miyake, Hirotomo Saitsu, Marjo S. van der Knaap, Tally Lerman-Sagie, Naomichi Matsumoto*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

18 Scopus citations

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Keyphrases

Biochemistry, Genetics and Molecular Biology

Neuroscience