Early and severe presentation of autosomal dominant Emery-Dreifuss muscular dystrophy (EMD2).
Mercuri
E
E
Department of Paediatrics and Dubowitz Neuromuscular Center, Imperial College School of Medicine, Hammersmith Hospital, London, UK. e.mercuri@ic.ac.uk
Manzur
A Y
AY
Jungbluth
H
H
Bonne
G
G
Muchir
A
A
Sewry
C
C
Schwartz
K
K
Muntoni
F
F
D001706:Biopsy; D003402:Creatine Kinase / Q000097:blood; D004252:DNA Mutational Analysis; D018450:Disease Progression; D005799:Genes, Dominant / Q000235:genetics*; D006801:Humans; D007223:Infant; D034882:Lamins; D008297:Male; D008565:Membrane Proteins / Q000096:biosynthesis; D018482:Muscle, Skeletal / Q000378:metabolism / Q000473:pathology; D020389:Muscular Dystrophy, Emery-Dreifuss / Q000097:blood / Q000175:diagnosis* / Q000235:genetics*; D009687:Nuclear Proteins / Q000235:genetics; D010375:Pedigree; D018807:Polymorphism, Single-Stranded Conformational; D013946:Thymopoietins / Q000096:biosynthesis
D034882:Lamins; D008565:Membrane Proteins; D009687:Nuclear Proteins; D013946:Thymopoietins; C092710:emerin; D003402:Creatine Kinase