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Volumn 22, Issue 5, 2014, Pages 707-710
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B3GALNT2 is a gene associated with congenital muscular dystrophy with brain malformations
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Author keywords
a dystroglycan; B3GALNT2; brain malformations; congenital muscular dystrophy
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Indexed keywords
ALPHA DYSTROGLYCAN;
BETA 1,3 N ACETYLGALACTOSAMINYLTRANSFERASE 2;
DYSTROPHIN;
MEROSIN;
N ACETYLGALACTOSAMINYLTRANSFERASE;
SARCOGLYCAN;
UNCLASSIFIED DRUG;
B3GALNT2 PROTEIN, HUMAN;
CREATINE KINASE;
APGAR SCORE;
ARTICLE;
ATAXIA;
ATAXIC GAIT;
BIRTH INJURY;
BIRTH WEIGHT;
BRAIN MALFORMATION;
CASE REPORT;
CHILD;
CLINICAL EXAMINATION;
CORTICAL DYSPLASIA;
CREATINE KINASE BLOOD LEVEL;
EYE MOVEMENT;
FEMALE;
GENE SEQUENCE;
GENETIC ASSOCIATION;
GRAY MATTER;
HEAD CIRCUMFERENCE;
HUMAN;
HUMAN TISSUE;
HYDROCEPHALUS;
IMMUNOHISTOCHEMISTRY;
LEARNING DISORDER;
MISSENSE MUTATION;
MUSCLE BIOPSY;
MUSCLE HYPOTONIA;
MUSCLE WEAKNESS;
MUSCULAR DYSTROPHY;
NUCLEAR MAGNETIC RESONANCE IMAGING;
PHENOTYPE;
PREGNANCY;
PRESCHOOL CHILD;
PRIORITY JOURNAL;
PROTEIN GLYCOSYLATION;
PSYCHOLOGIC TEST;
PSYCHOMOTOR DEVELOPMENT;
PSYCHOMOTOR RETARDATION;
SKELETAL MUSCLE;
SPASTICITY;
TENDON REFLEX;
VISUAL ACUITY;
WHITE MATTER;
BIOPSY;
BLOOD;
BRAIN;
GENETICS;
MUSCULAR DYSTROPHIES;
MUTATION;
NERVOUS SYSTEM MALFORMATIONS;
NUCLEOTIDE SEQUENCE;
PATHOLOGY;
PEDIGREE;
SYNDROME;
BIOPSY;
BRAIN;
CHILD, PRESCHOOL;
CREATINE KINASE;
DNA MUTATIONAL ANALYSIS;
FEMALE;
GENETIC ASSOCIATION STUDIES;
HUMANS;
MAGNETIC RESONANCE IMAGING;
MUSCLE, SKELETAL;
MUSCULAR DYSTROPHIES;
MUTATION;
N-ACETYLGALACTOSAMINYLTRANSFERASES;
NERVOUS SYSTEM MALFORMATIONS;
PEDIGREE;
PHENOTYPE;
SYNDROME;
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EID: 84898787827
PISSN: 10184813
EISSN: 14765438
Source Type: Journal
DOI: 10.1038/ejhg.2013.223 Document Type: Article |
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Times cited : (29)
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References (7)
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