Titre:
  • Diagnostic approach to the congenital muscular dystrophies
Auteur:Bönnemann, Carsten C.G.; Wang, Ching C.H.; Quijano-Roy, Susana; Deconinck, Nicolas; Bertini, Enrico; Ferreiro, Ana; Muntoni, Francesco; Sewry, Caroline C.A.; Béroud, Christophe; Mathews, Katherine K.D.; Moore, Steven S.A.; Bellini, Jonathan; Rutkowski, Anne; North, Kathryn N K.N.
Informations sur la publication:Neuromuscular disorders, 24, 4, page (289-311)
Statut de publication:Publié, 2014
Sujet CREF:Neurologie
Génétique clinique
Pédiatrie
Mots-clés:Alpha-dystroglycan
Collagen VI
Congenital muscular dystrophy
Diagnostic guideline
Lamin A/C
Laminin alpha2
RYR1
SEPN1
MeSH keywords:Brain -- pathology -- physiopathology
Child
Consensus
Diagnosis, Differential
Humans
Infant
Leg -- pathology -- physiopathology
Magnetic Resonance Imaging
Muscular Dystrophies -- diagnosis -- genetics -- pathology -- physiopathology
Note générale:SCOPUS: ar.j
Langue:Anglais
Identificateurs:urn:issn:0960-8966
info:doi/10.1016/j.nmd.2013.12.011
info:pii/S0960896614000029
info:scp/84895794868
info:pmid/24581957