Exome sequencing identifies a novel TTN mutation in a family with hereditary myopathy with early respiratory failure

Rumiko Izumi, Tetsuya Niihori, Yoko Aoki, Naoki Suzuki, Masaaki Kato, Hitoshi Warita, Toshiaki Takahashi, Maki Tateyama, Takeshi Nagashima, Ryo Funayama, Koji Abe, Keiko Nakayama, Masashi Aoki, Yoichi Matsubara

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31 Citations (Scopus)

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Medicine & Life Sciences