Congenital muscular dystrophy with dropped head phenotype and cognitive impairment due to a novel mutation in the LMNA gene.

Bonati, Ulrike; Bechtel, Nina; Heinimann, Karl; Rutz, Erich; Schneider, Jacques; Frank, Stephan; Weber, Peter; Fischer, Dirk

Bonati, Ulrike; Bechtel, Nina; Heinimann, Karl; Rutz, Erich; Schneider, Jacques; Frank, Stephan; Weber, Peter; Fischer, Dirk.

Afiliación

Bonati U; Division of Neuropaediatrics, University Children's Hospital Basel, Switzerland; Department of Neurology, University Hospital Basel, Switzerland. Electronic address: ulrike.bonati@ukbb.ch.
Bechtel N; Division of Neuropaediatrics, University Children's Hospital Basel, Switzerland.
Heinimann K; Division of Medical Genetics, University Hospital Basel, Switzerland.
Rutz E; Paediatric Orthopaedic Department, University Children's Hospital Basel, Switzerland.
Schneider J; Division of Neuroradiology, University Children's Hospital Basel, Switzerland.
Frank S; Institute of Pathology, Department of Neuropathology, Basel University Hospital, Switzerland.
Weber P; Division of Neuropaediatrics, University Children's Hospital Basel, Switzerland.
Fischer D; Division of Neuropaediatrics, University Children's Hospital Basel, Switzerland; Department of Neurology, University Hospital Basel, Switzerland.

Neuromuscul Disord ; 24(6): 529-32, 2014 Jun.

Article en En | MEDLINE | ID: mdl-24684859

Asunto(s)

Trastornos del Conocimiento/genética; Lamina Tipo A/genética; Hipotonía Muscular/genética; Distrofias Musculares/genética; Encéfalo/patología; Preescolar; Trastornos del Conocimiento/complicaciones; Femenino; Cabeza; Humanos; Hipotonía Muscular/complicaciones; Distrofias Musculares/complicaciones; Distrofias Musculares/congénito; Distrofias Musculares/patología; Mutación Missense; Fibras Nerviosas Mielínicas/patología; Fenotipo

Palabras clave

Congenital muscular dystrophy; Dropped head phenotype; L-CMD; LMNA gene mutation; White matter lesions

Texto completo

Añadir a Mi BVS

Imprimir

XML

PubMed Links

Buscar en Google

Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Trastornos del Conocimiento / Lamina Tipo A / Hipotonía Muscular / Distrofias Musculares Límite: Child, preschool / Female / Humans Idioma: En Revista: Neuromuscul Disord Asunto de la revista: NEUROLOGIA Año: 2014 Tipo del documento: Article

Texto completo

Añadir a Mi BVS

Imprimir

XML

PubMed Links

Buscar en Google