A case of Walker-Warburg syndrome resulting from a homozygous POMT1 mutation

European Journal of Paediatric Neurology

Volumn 11, Issue 1, 2007, Pages 46-49

  Yis, Uluç ^a   Uyanik, Gökhan ^b   Kurul, Semra ^a   Dirik, Eray ^a   Özer, Erdener ^a   Gross, Claudia ^c   Hehr, Ute ^c  

^a DOKUZ EYLUL UNIVERSITY   (Turkey)

^b UNIVERSITY OF REGENSBURG   (Germany)

^c Center for Human Genetics   (Germany)

Author keywords

dystroglycanopathy; Congenital muscular dystrophy; POMT1 gene

Indexed keywords

ALPHA DYSTROGLYCAN; ANTICONVULSIVE AGENT; CYTOSINE; FUKUTIN; FUKUTIN RELATED PROTEIN; MANNOSYLTRANSFERASE; POMT1 PROTEIN; POMT2 PROTEIN; THYMINE; UNCLASSIFIED DRUG;

AGYRIA; ARTICLE; BRAIN MALFORMATION; CASE REPORT; CEREBELLUM HYPOPLASIA; CLINICAL FEATURE; CONGENITAL HYDROCEPHALUS; DISEASE SEVERITY; EYE MALFORMATION; GESTATIONAL AGE; HOMOZYGOSITY; HUMAN; HUMAN TISSUE; INFANT; LINKAGE ANALYSIS; MALE; MUSCLE BIOPSY; MUSCLE HYPOTONIA; MUSCULAR DYSTROPHY; MUTATIONAL ANALYSIS; MYOCLONUS SEIZURE; NEUROIMAGING; NONSENSE MUTATION; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEIC ACID BASE SUBSTITUTION; PRIORITY JOURNAL; WALKER WARBURG SYNDROME;

CODON, NONSENSE; HUMANS; HYDROCEPHALUS; INFANT, NEWBORN; MALE; MANNOSYLTRANSFERASES; MUSCULAR DYSTROPHIES; SYNDROME;

EID: 33846157171     PISSN: 10903798     EISSN: 15322130     Source Type: Journal    
DOI: 10.1016/j.ejpn.2006.10.007     Document Type: Article

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