Your browser doesn't support javascript.
loading
LIMS2 mutations are associated with a novel muscular dystrophy, severe cardiomyopathy and triangular tongues.
Chardon, Jodi Warman; Smith, A C; Woulfe, J; Pena, E; Rakhra, K; Dennie, C; Beaulieu, C; Huang, Lijia; Schwartzentruber, J; Hawkins, C; Harms, M B; Dojeiji, S; Zhang, M; Majewski, J; Bulman, D E; Boycott, K M; Dyment, D A.
Afiliação
  • Chardon JW; Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada.
  • Smith AC; Ottawa Hospital Research Institute, Ottawa, Ontario, Canada.
  • Woulfe J; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada.
  • Pena E; Department of Pathology, The Ottawa Hospital, Ottawa, Ontario, Canada.
  • Rakhra K; Ottawa Hospital Research Institute, Ottawa, Ontario, Canada.
  • Dennie C; Department of Medical Imaging, The Ottawa Hospital, Ottawa, Ontario, Canada.
  • Beaulieu C; Ottawa Hospital Research Institute, Ottawa, Ontario, Canada.
  • Huang L; Department of Medical Imaging, The Ottawa Hospital, Ottawa, Ontario, Canada.
  • Schwartzentruber J; Ottawa Hospital Research Institute, Ottawa, Ontario, Canada.
  • Hawkins C; Department of Medical Imaging, The Ottawa Hospital, Ottawa, Ontario, Canada.
  • Harms MB; University of Ottawa Heart Institute, Ottawa, Ontario, Canada.
  • Dojeiji S; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada.
  • Zhang M; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada.
  • Majewski J; Department of Laboratory Medicine & Pathobiology, The Hospital for Sick Children, Toronto, Ontario, Canada.
  • Bulman DE; Department of Neurology and Hope Center for Neurological Disorders, Washington University, Saint Louis, MO, USA.
  • Boycott KM; The Ottawa Hospital Rehabilitation Center, Ottawa, Ontario, Canada.
  • Dyment DA; Ottawa Hospital Research Institute, Ottawa, Ontario, Canada.
Clin Genet ; 88(6): 558-64, 2015 Dec.
Article em En | MEDLINE | ID: mdl-25589244
ABSTRACT
Limb girdle muscular dystrophy (LGMD) is a heterogeneous group of genetic disorders leading to progressive muscle degeneration and often associated with cardiac complications. We present two adult siblings with childhood-onset of weakness progressing to a severe quadriparesis with the additional features of triangular tongues and biventricular cardiac dysfunction. Whole exome sequencing identified compound heterozygous missense mutations that are predicted to be pathogenic in LIMS2. Biopsy of skeletal muscle demonstrated disrupted immunostaining of LIMS2. This is the first report of mutations in LIMS2 and resulting disruption of the integrin linked kinase (ILK)-LIMS-parvin complex associated with LGMD.
Assuntos
Palavras-chave
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Língua / Predisposição Genética para Doença / Mutação de Sentido Incorreto / Distrofia Muscular do Cíngulo dos Membros / Proteínas Adaptadoras de Transdução de Sinal / Proteínas com Domínio LIM / Proteínas de Membrana / Cardiomiopatias Tipo de estudo: Prognostic_studies / Risk_factors_studies Limite: Adult / Female / Humans / Male Idioma: En Revista: Clin Genet Ano de publicação: 2015 Tipo de documento: Article País de afiliação: Canadá
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Língua / Predisposição Genética para Doença / Mutação de Sentido Incorreto / Distrofia Muscular do Cíngulo dos Membros / Proteínas Adaptadoras de Transdução de Sinal / Proteínas com Domínio LIM / Proteínas de Membrana / Cardiomiopatias Tipo de estudo: Prognostic_studies / Risk_factors_studies Limite: Adult / Female / Humans / Male Idioma: En Revista: Clin Genet Ano de publicação: 2015 Tipo de documento: Article País de afiliação: Canadá