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

By Arenas Barbero, Joaquín | Martín, Miguel A. | Martinez Azorin, Francisco | Delmiro Magdalena, Aitor. European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society, 2014 . 18(6):796-800. , Formato Vancouver: Castro-Gago M, Dacruz-Alvárez D, Pintos-Martínez E, Beiras-Iglesias A, Delmiro A, Arenas J et al. Exome sequencing identifies a CHKB mutation in Spanish patient with megaconial congenital muscular dystrophy and mtDNA depletion. Eur J Paediatr Neurol. 2014 Nov;18(6):796-800.

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LAMA2-related congenital muscular dystrophy complicated by West syndrome.

By Camacho Salas, Ana | Núñez Enamorado, Noemí | Martínez de Aragón Calvo, Ana | Simón de las Heras, Rogelio. European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society, 2015 . 19(2):243-7. , Formato Vancouver: Camacho A, Núñez N, Dekomien G, Hernández Laín A, de Aragón AM, Simón R. LAMA2-related congenital muscular dystrophy complicated by West syndrome. Eur J Paediatr Neurol. 2015 Mar;19(2):243-7.

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

LAMA2-related congenital muscular dystrophy complicated by West syndrome.