An unusual presentation of Muscle-Eye-Brain disease: Severe eye abnormalities with mild muscle and brain involvement

Neuromuscular Disorders

Volumn 19, Issue 10, 2009, Pages 692-695

  Demir, Ercan ^a   Gucuyener, Kivilcim ^a   Akturk, Aysima ^a   Talim, Beril ^b   Konus, Oznur ^a   Del Bo, Roberto ^c   Ghezzi, Serena ^c   Comi, Giacomo P ^c  

^a GAZI UNIVERSITY   (Turkey)

^b HACETTEPE UNIVERSITY   (Turkey)

^c UNIVERSITY OF MILAN   (Italy)

Author keywords

MEB; Mild phenotype; Severe eye abnormalities

Indexed keywords

ALPHA DYSTROGLYCAN; ARGININE; CREATINE KINASE; GENOMIC DNA; N ACETYLGLUCOSAMINYLTRANSFERASE; PROLINE;

AMINO ACID SUBSTITUTION; ARTICLE; BRAIN DISEASE; CASE REPORT; CLINICAL EXAMINATION; CLINICAL FEATURE; CONGENITAL BLINDNESS; CONSANGUINITY; DISEASE SEVERITY; DNA EXTRACTION; ENOPHTHALMOS; EYE DISEASE; FEMALE; GENE MUTATION; GENETIC ANALYSIS; HOMOZYGOSITY; HUMAN; MICROGYRIA; MICROPHTHALMIA; MOTOR RETARDATION; MUSCLE BIOPSY; MUSCLE DISEASE; MUSCLE EYE BRAIN DISEASE; MUSCLE HYPOTONIA; NEWBORN; NUCLEAR MAGNETIC RESONANCE IMAGING; NYSTAGMUS; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROTEIN DEFICIENCY; RETINA DETACHMENT;

ABNORMALITIES, MULTIPLE; BRAIN; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; EYE ABNORMALITIES; FEMALE; HUMANS; MAGNETIC RESONANCE IMAGING; MUSCLE, SKELETAL; MUSCULAR DYSTROPHIES; N-ACETYLGLUCOSAMINYLTRANSFERASES; POINT MUTATION; SEQUENCE HOMOLOGY, AMINO ACID;

EID: 70349388710     PISSN: 09608966     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.nmd.2009.07.006     Document Type: Article

References (10)

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