Congenital disorder of glycosylation due to DPM1 mutations presenting with dystroglycanopathy-type congenital muscular dystrophy

Molecular Genetics and Metabolism

Volumn 110, Issue 3, 2013, Pages 345-351

  Yang, Amy C ^a   Ng, Bobby G ^b   Moore, Steven A ^c   Rush, Jeffrey ^d   Waechter, Charles J ^d   Raymond, Kimiyo M ^e   Willer, Tobias ^f   Campbell, Kevin P ^f   Freeze, Hudson H ^b   Mehta, Lakshmi ^a  

^a MOUNT SINAI SCHOOL OF MEDICINE   (United States)

^b BURNHAM INSTITUTE   (United States)

^c UNIVERSITY OF IOWA   (United States)

^d UNIVERSITY OF KENTUCKY MEDICAL CENTER   (United States)

^e MAYO CLINIC COLLEGE OF MEDICINE   (United States)

^f HOWARD HUGHES MEDICAL INSTITUTE   (United States)

Author keywords

CDG Ie; Congenital disorder of glycosylation; Congenital muscular dystrophy; DPM1; DPM1 CDG; Dystroglycanopathy

Indexed keywords

ALPHA DYSTROGLYCAN; BETA DYSTROGLYCAN; CARBOHYDRATE DEFICIENT TRANSFERRIN; CREATINE KINASE; DOLICHOL PHOSPHATE MANNOSE; DOLICHOL PHOSPHATE MANNOSE SYNTHASE SUBUNIT 1; DOLICHOL PHOSPHATE MANNOSE SYNTHASE SUBUNIT 2; DOLICHOL PHOSPHATE MANNOSE SYNTHASE SUBUNIT 3; EPITOPE; GLYCINE; UNCLASSIFIED DRUG; VALINE;

ALANINE AMINOTRANSFERASE BLOOD LEVEL; AMINO ACID SUBSTITUTION; AMYGDALOID NUCLEUS; ARTICLE; ASPARTATE AMINOTRANSFERASE BLOOD LEVEL; BINDING AFFINITY; BRAIN DYSFUNCTION; CAMPTODACTYLY; CASE REPORT; COMPLEX PARTIAL SEIZURE; CONGENITAL DISORDER OF GLYCOSYLATION TYPE 1; CONTROLLED STUDY; DPM1 GENE; DPM2 GENE; DPM3 GENE; ENZYME ACTIVITY; ENZYME SUBSTRATE COMPLEX; EXON; FAMILY HISTORY; FOLLOW UP; GENE; GENE ACTIVITY; GENE DELETION; GENE DUPLICATION; GENE EXPRESSION; GENE INTERACTION; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC TRANSFECTION; GRAND MAL EPILEPSY; HETEROZYGOTE; HIPPOCAMPUS; HISTOPATHOLOGY; HUMAN; HUMAN CELL; IMMUNOHISTOCHEMISTRY; IN VITRO STUDY; INFANT; LIQUID CHROMATOGRAPHY; MALE; MASS SPECTROMETRY; MICROCEPHALY; MISSENSE MUTATION; MOTOR DEVELOPMENT; MUSCLE BIOPSY; MUSCLE HYPOTONIA; MUSCULAR DYSTROPHY; MYELINATION; NUCLEOTIDE SEQUENCE; PATHOGENICITY; PHENOTYPE; PRIORITY JOURNAL; QUADRICEPS FEMORIS MUSCLE; SEIZURE; SKIN FIBROBLAST; TEMPORAL LOBE; TRANSFERRIN BLOOD LEVEL; WILD TYPE;

CDG; CDG-IE; CGH; CK; COMPARATIVE GENOMIC HYBRIDIZATION; CONGENITAL DISORDER OF GLYCOSYLATION; CONGENITAL MUSCULAR DYSTROPHY; CREATINE KINASE; DLO; DOL-P; DOL-P-MAN; DOLICHOL-LINKED OLIGOSACCHARIDES; DOLICHOL-P-MANNOSE; DOLICHOL-P-MANNOSE SYNTHASE; DOLICHOL-PHOSPHATE; DPM; DPM1; DPM1-CDG; DYSTROGLYCANOPATHY; EEG; ELECTROENCEPHALOGRAM; ENDOPLASMIC RETICULUM; ER; GDP-MAN; GDP-MANNOSE; GLCNAC; GLYCOPHOSPHATIDYL INOSITOL; GPI; MAGNETIC RESONANCE IMAGING; MRI; N-ACETYLGLUCOSAMINE;

BIOPSY; CONGENITAL DISORDERS OF GLYCOSYLATION; DIAGNOSIS, DIFFERENTIAL; DISEASE PROGRESSION; ENZYME ACTIVATION; EXONS; FEMALE; GENE ORDER; HUMANS; INFANT; MALE; MANNOSYLTRANSFERASES; MUSCLE, SKELETAL; MUSCULAR DYSTROPHIES; MUTATION;

EID: 84885421942     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2013.06.016     Document Type: Article

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