Whole exome sequencing identifies three recessive FIG4 mutations in an apparently dominant pedigree with Charcot-Marie-Tooth disease.

Menezes, Manoj P; Waddell, Leigh; Lenk, Guy M; Kaur, Simranpreet; MacArthur, Daniel G; Meisler, Miriam H; Clarke, Nigel F

Menezes, Manoj P; Waddell, Leigh; Lenk, Guy M; Kaur, Simranpreet; MacArthur, Daniel G; Meisler, Miriam H; Clarke, Nigel F.

Afiliação

Menezes MP; Institute for Neuroscience and Muscle Research, The Children's Hospital at Westmead, Sydney, Australia; Discipline of Paediatrics and Child Health, The University of Sydney, Sydney, Australia. Electronic address: manoj.menezes@health.nsw.gov.au.
Waddell L; Institute for Neuroscience and Muscle Research, The Children's Hospital at Westmead, Sydney, Australia; Discipline of Paediatrics and Child Health, The University of Sydney, Sydney, Australia.
Lenk GM; Department of Human Genetics, University of Michigan, Ann Arbor, MI, USA.
Kaur S; Institute for Neuroscience and Muscle Research, The Children's Hospital at Westmead, Sydney, Australia.
MacArthur DG; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA; Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, MA, USA; Department of Medicine, Harvard Medical School, Boston, MA, USA.
Meisler MH; Department of Human Genetics, University of Michigan, Ann Arbor, MI, USA.
Clarke NF; Institute for Neuroscience and Muscle Research, The Children's Hospital at Westmead, Sydney, Australia; Discipline of Paediatrics and Child Health, The University of Sydney, Sydney, Australia.

Neuromuscul Disord ; 24(8): 666-70, 2014 Aug.

Article em En | MEDLINE | ID: mdl-24878229

Assuntos

Doença de Charcot-Marie-Tooth/genética; Flavoproteínas/genética; Monoéster Fosfórico Hidrolases/genética; Adolescente; Adulto; Doença de Charcot-Marie-Tooth/fisiopatologia; Códon sem Sentido; Distrofina/genética; Família; Feminino; Genes Recessivos; Heterozigoto; Humanos; Linhagem; Índice de Gravidade de Doença

Palavras-chave

Autosomal recessive CMT; CMT4J; CharcotMarieTooth; FIG4; Whole exome sequencing

Texto completo

Adicionar na Minha BVS

Imprimir

XML

PubMed Links

Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Doença de Charcot-Marie-Tooth / Monoéster Fosfórico Hidrolases / Flavoproteínas Tipo de estudo: Prognostic_studies Limite: Adolescent / Adult / Female / Humans Idioma: En Revista: Neuromuscul Disord Assunto da revista: NEUROLOGIA Ano de publicação: 2014 Tipo de documento: Article País de publicação: Reino Unido

Texto completo

Adicionar na Minha BVS

Imprimir

XML

PubMed Links

Buscar no Google