Novel LMNA mutation presenting as severe congenital muscular dystrophy

Pediatric Neurology

Volumn 43, Issue 4, 2010, Pages 283-286

  Prigogine, Cynthia ^a   Richard, Pascale ^b   Van Den Bergh, Peter ^c   Groswasser, José ^a   Deconinck, Nicolas ^a  

^a HOP UNIV DES ENFANTS REINE FABIOLA   (Belgium)

^b PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^c CLINIQUES UNIVERSITAIRES SAINT LUC   (Belgium)

Author keywords

[No Author keywords available]

Indexed keywords

CREATINE KINASE; FUKUTIN RELATED PROTEIN; LAMIN A;

ARTICLE; ARTIFICIAL VENTILATION; CASE REPORT; CHILD; CLINICAL ASSESSMENT; CREATINE KINASE BLOOD LEVEL; DISEASE ASSOCIATION; DISEASE COURSE; ELECTROMYOGRAPHY; FAILURE TO THRIVE; FEEDING DISORDER; FIBER; GENE MUTATION; HUMAN; JOINT CONTRACTURE; LORDOSIS; MALE; MOTOR DEVELOPMENT; MUSCLE BIOPSY; MUSCLE WEAKNESS; MUSCULAR DYSTROPHY; MYOTATIC REFLEX; PRESCHOOL CHILD; PRIORITY JOURNAL; PSOAS MUSCLE; REFLEX DISORDER; RESPIRATORY FAILURE; TRACHEOSTOMY;

CHILD; HUMANS; IMMUNOHISTOCHEMISTRY; LAMIN TYPE A; MALE; MUSCLE WEAKNESS; MUSCULAR DYSTROPHIES; MUTATION;

EID: 77956585690     PISSN: 08878994     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.pediatrneurol.2010.05.016     Document Type: Article

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