Muscle-eye-brain disease

Journal of Clinical Neuromuscular Disease

Volumn 11, Issue 3, 2010, Pages 124-126

  Shenoy, Anant M ^a   Markowitz, Jennifer A ^a   Bonnemann, Carsten G ^b   Krishnamoorthy, Kalpathy ^a   Bossler, Aaron D ^c   Tseng, Brian S ^a  

^a MASSACHUSETTS GENERAL HOSPITAL   (United States)

^b CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

^c UNIVERSITY OF IOWA   (United States)

Author keywords

Congenital brain malformations; Congenital muscular dystrophy; Dystroglycanopathy; FKRP; Fukutin; Fukuyama muscular dystrophy; LARGE; Muscle biopsy; Muscle Eye Brain disease; POMGnT1; POMT1; POMT2; Syndrome; WalkerWarburg

Indexed keywords

ALPHA DYSTROGLYCAN; CREATINE KINASE; FUKUTIN RELATED PROTEIN;

ARTICLE; CASE REPORT; DNA SEQUENCE; EYE EXAMINATION; FEMALE; GENETIC ANALYSIS; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; INFANT; MUSCLE BIOPSY; MUSCLE EYE BRAIN DISEASE; PRIORITY JOURNAL;

BRAIN DISEASES; DYSTROGLYCANS; EYE ABNORMALITIES; FEMALE; HUMANS; INFANT; MAGNETIC RESONANCE IMAGING; MUSCULAR DISEASES;

EID: 77949472287     PISSN: 15220443     EISSN: 15371611     Source Type: Journal    
DOI: 10.1097/CND.0b013e3181c5054d     Document Type: Article

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