Congenital muscular dystrophies: Muscle-eye-brain disease;Kongenitale muskeldystrophie: Muscle-eye-brain disease

Klinische Padiatrie

Volumn 217, Issue 2, 2005, Pages 68-69

  Meyer, Sascha ^a   Struffert, T ^a   Uyanik, G ^b   Oehl Jaschkowitz, B ^c   Hehr, U ^d   Shamdeen, M G ^a  

^a SAARLAND UNIVERSITY   (Germany)

^b Klinik und Poliklinik fur Neurologie   (Germany)

^c Biomedizinisches Zentrum   (Germany)

^d Zentrum fur Gynakol Endokrinologie   (Germany)

Author keywords

Congenital muscular dystrophies; Muscle eye brain disease; Walker Warburg syndrome

Indexed keywords

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BRAIN MALFORMATION; CASE REPORT; CELL MIGRATION; CLINICAL FEATURE; FUKUYAMA CONGENITAL MUSCULAR DYSTROPHY; HUMAN; MALE; MUSCLE EYE BRAIN DISEASE; MUSCULAR DYSTROPHY; NERVE CELL; NEWBORN; NUCLEAR MAGNETIC RESONANCE IMAGING; RADIODIAGNOSIS; WALKER WARBURG SYNDROME;

BRAIN; CHILD, PRESCHOOL; CHROMOSOME MAPPING; DIAGNOSIS, DIFFERENTIAL; ELECTROMYOGRAPHY; EXONS; EYE DISEASES, HEREDITARY; GENES, RECESSIVE; HETEROZYGOTE DETECTION; HUMANS; HYDROCEPHALUS; INFANT; INFANT, NEWBORN; MAGNETIC RESONANCE IMAGING; MALE; MUSCLE HYPOTONIA; MUSCULAR DYSTROPHIES; N-ACETYLGLUCOSAMINYLTRANSFERASES; POINT MUTATION;

EID: 16844385673     PISSN: 03008630     EISSN: None     Source Type: Journal    
DOI: 10.1055/s-2004-836254     Document Type: Article

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