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Occipital cortex dysgenesis with white matter changes due to mutations in Laminin a2.
Yis, Uluç; Dixit, Vishal; Isikay, Sedat; Karakaya, Mert; Baydan, Figen; Diniz, Gülden; Polat, Ipek; Hiz-Kurul, Semra; Çirak, Sebahattin.
Afiliação
  • Yis U; Division of Child Neurology, Department of Pediatrics, Dokuz Eylül University School of Medicine, Izmir.
  • Dixit V; Institut für Humangenetik am Universitätsklinikum, Köln, Germany.
  • Isikay S; Division of Child Neurology, Department of Pediatrics, Sütçü Imam University, School of Medicine, Kahramanmaras.
  • Karakaya M; Institut für Humangenetik am Universitätsklinikum, Köln, Germany.
  • Baydan F; Division of Child Neurology, Tepecik Training and Research Hospital, Izmir.
  • Diniz G; Neuromuscular Disease Center, Tepecik Training and Research Hospital, Izmir.
  • Polat I; Division of Child Neurology, Department of Pediatrics, Dokuz Eylül University School of Medicine, Izmir.
  • Hiz-Kurul S; Division of Child Neurology, Department of Pediatrics, Dokuz Eylül University School of Medicine, Izmir.
  • Çirak S; Institut für Humangenetik am Universitätsklinikum, Köln, Germany.
Turk J Pediatr ; 59(3): 338-341, 2017.
Article em En | MEDLINE | ID: mdl-29376585
Yis U, Dixit V, Isikay S, Karakaya M, Baydan F, Diniz G, Polat I, Hiz-Kurul S, Çirak S. Occipital cortex dysgenesis with white matter changes due to mutations in Laminin a2. Turk J Pediatr 2017; 59: 338-341. Laminin α2 related congenital muscular dystrophy is one of the most common congenital muscular dystrophies of childhood with or without clinical evidence of central nervous system involvement. It may be associated with significant white matter abnormalities resembling leukodystrophies. In this study, we elaborated on two cases with laminin α2 related congenital muscular dystrophy who had occipital cortex dysgenesis in addition to characteristic white matter abnormalities. Although laminin α2 related congenital muscular dystrophy with white matter abnormalities is known, the association with occipital cortex dysplasia has been not well recognized by clinical colleagues.
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Laminina / Malformações do Desenvolvimento Cortical / Substância Branca / Distrofias Musculares / Lobo Occipital Limite: Humans / Infant / Male Idioma: En Ano de publicação: 2017 Tipo de documento: Article

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Laminina / Malformações do Desenvolvimento Cortical / Substância Branca / Distrofias Musculares / Lobo Occipital Limite: Humans / Infant / Male Idioma: En Ano de publicação: 2017 Tipo de documento: Article