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Article

Expanding the phenotypic spectrum of TUBB4A-associated hypomyelinating leukoencephalopathies.

Neurology - 17 Jun 2014

Miyatake Satoko, Osaka Hitoshi, Shiina Masaaki, Sasaki Masayuki, Takanashi Jun-Ichi, Haginoya Kazuhiro, Wada Takahito, Morimoto Masafumi, Ando Naoki, Ikuta Yoji, Nakashima Mitsuko, Tsurusaki Yoshinori, Miyake Noriko, Ogata Kazuhiro, Matsumoto Naomichi, Saitsu Hirotomo

Abstract excerpt

OBJECTIVE: We performed whole-exome sequencing analysis of patients with genetically unsolved hypomyelinating leukoencephalopathies, identifying 8 patients with TUBB4A mutations and allowing the phenotypic spectrum of TUBB4A mutations to be investigated. METHODS: Fourteen patients with hypomyelinating leukoencephalopathies, 7 clinically diagnosed with hypomyelination with atrophy of the basal ganglia and...

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PMID: 24850488
DOI: 10.1212/WNL.0000000000000535

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