Clinical features and molecular characterization of a patient with muscle-eye-brain disease: A novel mutation in the POMGNT1 gene

Journal of Child Neurology

Volumn 29, Issue 2, 2014, Pages 289-294

  Raducu, Madalina ^a   Cotarelo, Rocío P ^a   Simón, Rogelio ^b   Camacho, Ana ^b   Rubio Fernández, Marcos ^a   Hernández Laín, Aurelio ^b   Cruces, Jesús ^a  

^a INSTITUTO DE INVESTIGACIONES BIOMÉDICAS ALBERTO SOLS   (Spain)

^b HOSPITAL UNIVERSITARIO 12 DE OCTUBRE   (Spain)

Author keywords

dystroglycan; dystroglycanopathy; glycosylation; muscle eye brain disease; POMGNT1

Indexed keywords

DNA; LAMININ; N ACETYLGLUCOSAMINYLTRANSFERASE; O MANNOSE BETA 1,2 N ACETYLGLUCOSAMINYLTRANSFERASE 1; UNCLASSIFIED DRUG;

ARTICLE; CASE REPORT; CELL SIZE; CHILD; CLINICAL FEATURE; DNA SEQUENCE; EXON; FAMILY HISTORY; FRAMESHIFT MUTATION; GENE DELETION; GENE MUTATION; GLYCOSYLATION; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; IMMUNOBLOTTING; IMMUNOHISTOCHEMISTRY; MALE; MISSENSE MUTATION; MUSCLE BIOPSY; MUSCLE CELL; MUSCLE EYE BRAIN DISEASE; MUTATIONAL ANALYSIS; PATHOGENESIS; PRIORITY JOURNAL; QUADRICEPS FEMORIS MUSCLE; SCHOOL CHILD; SEQUENCE ANALYSIS; STOP CODON;

DYSTROGLYCAN; DYSTROGLYCANOPATHY; GLYCOSYLATION; MUSCLE-EYE-BRAIN DISEASE; POMGNT1;

BIOPSY; BRAIN; CHILD; DNA MUTATIONAL ANALYSIS; HUMANS; IMMUNOBLOTTING; IMMUNOHISTOCHEMISTRY; MAGNETIC RESONANCE IMAGING; MALE; MUTATION; MUTATION, MISSENSE; N-ACETYLGLUCOSAMINYLTRANSFERASES; QUADRICEPS MUSCLE; WALKER-WARBURG SYNDROME;

EID: 84892719146     PISSN: 08830738     EISSN: 17088283     Source Type: Journal    
DOI: 10.1177/0883073813509119     Document Type: Article

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