FKRP gene mutations cause congenital muscular dystrophy, mental retardation, and cerebellar cysts

Neurology

Volumn 60, Issue 6, 2003, Pages 988-992

  Topaloglu, H ^a   Brockington, M ^b   Yuva, Y ^b   Talim, B ^a   Haliloglu, G ^a   Blake, D ^c   Torelli, S ^b   Brown, S C ^b   Muntoni, Francesco ^b  

^a HACETTEPE UNIVERSITY   (Turkey)

^b HAMMERSMITH HOSPITAL   (United Kingdom)

^c UNIVERSITY OF OXFORD   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

DYSTROGLYCAN; FUKUTIN RELATED PROTEIN; MEROSIN; PROTEIN; UNCLASSIFIED DRUG;

ARTICLE; BRAIN CYST; CASE REPORT; CONTROLLED STUDY; FEMALE; HUMAN; HUMAN TISSUE; IMMUNOHISTOCHEMISTRY; INFANT; MALE; MENTAL DEFICIENCY; MUSCLE BIOPSY; MUSCULAR DYSTROPHY; MUTATION; NUCLEAR MAGNETIC RESONANCE IMAGING; PRIORITY JOURNAL; PROTEIN EXPRESSION; PROTEIN PROCESSING;

EID: 0037465832     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/01.WNL.0000052996.14099.DC     Document Type: Article

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