(Q58036212)
Statements
Recessive RYR1 mutations in a patient with severe congenital nemaline myopathy with ophthalomoplegia identified through massively parallel sequencing (English)
Eri Kondo
Takafumi Nishimura
Tomoki Kosho
Yuji Inaba
Satomi Mitsuhashi
Takefumi Ishida
Atsushi Baba
Kenichi Koike
Ikuya Nonaka
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