Mutations in SEPN1 cause congenital muscular dystrophy with spinal rigidity and restrictive respiratory syndrome

Nature Genetics

Volumn 29, Issue 1, 2001, Pages 17-18

  Moghadaszadeh, Behzad ^a   Petit, Nathalie ^a   Jaillard, Céline ^a   Brockington, Martin ^b   Roy, Susana Quijano ^c   Merlini, Luciano ^d   Romero, Norma ^a   Estournet, Brigitte ^c   Desguerre, Isabelle ^e   Chaigne, Denys ^f   Muntoni, Francesco ^b   Topaloglu, Haluk ^g   Guicheney, Pascale ^a  

^a PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^b HAMMERSMITH HOSPITAL   (United Kingdom)

^c RAYMOND POINCARÉ HOSPITAL   (France)

^d RIZZOLI ORTHOPAEDIC INSTITUTE   (Italy)

^e HÔPITAL SAINT VINCENT DE PAUL   (France)

^f Clinique Sainte Odile   (France)

^g HACETTEPE UNIVERSITY   (Turkey)

Author keywords

[No Author keywords available]

Indexed keywords

PROTEIN SEPN1; SELENOPROTEIN; UNCLASSIFIED DRUG;

ARTICLE; CHILD; GENE LINKAGE DISEQUILIBRIUM; GENE LOCUS; GENE MUTATION; HUMAN; MUSCULAR DYSTROPHY; NEUROMUSCULAR DISEASE; NONHUMAN; PRIORITY JOURNAL; RESPIRATORY FAILURE; RIGID SPINE SYNDROME;

EID: 17944367320     PISSN: 10614036     EISSN: None     Source Type: Journal    
DOI: 10.1038/ng713     Document Type: Article

References (15)