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Exome sequencing identifies a CHKB mutation in Spanish patient with megaconial congenital muscular dystrophy and mtDNA depletion

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Description scientific article published on 20 June 2014
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author: Miguel Angel Martín  David Dacruz-Alvarez  Andrés Beiras-Iglesias  Francisco Martínez-Azorín  Manuel Castro-Gago  Joaquín Arenas 

Publication date June 20, 2014
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