GMPPB-Associated Dystroglycanopathy: Emerging Common Variants with Phenotype Correlation.

Jensen, Braden S; Willer, Tobias; Saade, Dimah N; Cox, Mary O; Mozaffar, Tahseen; Scavina, Mena; Stefans, Vikki A; Winder, Thomas L; Campbell, Kevin P; Moore, Steven A; Mathews, Katherine D

Jensen, Braden S; Willer, Tobias; Saade, Dimah N; Cox, Mary O; Mozaffar, Tahseen; Scavina, Mena; Stefans, Vikki A; Winder, Thomas L; Campbell, Kevin P; Moore, Steven A; Mathews, Katherine D.

Afiliação

Jensen BS; Departments of Pediatrics and Neurology, University of Iowa Carver College of Medicine, Iowa City, Iowa.
Willer T; Howard Hughes Medical Institute, Departments of Molecular Physiology and Biophysics, Neurology, and Internal Medicine, University of Iowa Carver College of Medicine, University of Iowa, Iowa City, Iowa.
Saade DN; Departments of Pediatrics and Neurology, University of Iowa Carver College of Medicine, Iowa City, Iowa.
Cox MO; Department of Pathology, University of Iowa Carver College of Medicine, Iowa City, Iowa.
Mozaffar T; Departments of Neurology and Orthopaedic Surgery, University of California, Irvine, California.
Scavina M; Nemours/Alfred I. duPont Hospital for Children, Wilmington, Delaware.
Stefans VA; Departments of Pediatrics and Physical Medicine and Rehabilitation, University of Arkansas for Medical Sciences College of Medicine, Little Rock, Arkansas.
Winder TL; Invitae Corp, San Francisco, California.
Campbell KP; Prevention Genetics, Marshfield, Wisconsin.
Moore SA; Howard Hughes Medical Institute, Departments of Molecular Physiology and Biophysics, Neurology, and Internal Medicine, University of Iowa Carver College of Medicine, University of Iowa, Iowa City, Iowa.
Mathews KD; Department of Pathology, University of Iowa Carver College of Medicine, Iowa City, Iowa.

Hum Mutat ; 36(12): 1159-63, 2015 Dec.

Article em En | MEDLINE | ID: mdl-26310427

Assuntos

Distroglicanas/metabolismo; Distrofias Musculares/genética; Distrofias Musculares/metabolismo; Mutação; Nucleotidiltransferases/genética; Fenótipo; Adolescente; Alelos; Biópsia; Encéfalo/patologia; Criança; Pré-Escolar; Feminino; Estudos de Associação Genética; Heterozigoto; Humanos; Lactente; Imageamento por Ressonância Magnética; Masculino; Músculo Esquelético/metabolismo; Músculo Esquelético/patologia; Distrofias Musculares/diagnóstico; Adulto Jovem

Palavras-chave

GMPPB; congenital muscular dystrophy; congenital myasthenic syndrome; dystroglycanopathy; limb-girdle muscular dystrophy

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Fenótipo / Distroglicanas / Distrofias Musculares / Mutação / Nucleotidiltransferases Tipo de estudo: Diagnostic_studies / Prognostic_studies / Risk_factors_studies Limite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: Hum Mutat Ano de publicação: 2015 Tipo de documento: Article

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