A case presenting with delayed motor milestones.
Muntoni
Francesco
F
Dubowitz Neuromuscular Centre, Department of Pediatrics, Imperial College London, Hammersmith Hospital, Du Cane Road, London, UK. f.muntoni@imperial.ac.uk
Zafeiriou
Dimitrios I
DI
Jimenez
Cecilia
C
Reuser
Arnold
A
Sewry
Caroline
C
D002658:Developmental Disabilities / Q000209:etiology*; D005260:Female; D005959:Glucosidases / Q000235:genetics; D006801:Humans; D007150:Immunohistochemistry / Q000379:methods; D007223:Infant; D018908:Muscle Weakness / Q000209:etiology*; D009136:Muscular Dystrophies / Q000235:genetics / Q000378:metabolism / Q000503:physiopathology*; D020125:Mutation, Missense; D024744:Skeletal Muscle Myosins / Q000378:metabolism
D005959:Glucosidases; D024744:Skeletal Muscle Myosins