Journal article icon

Journal article

DMD and West syndrome

Abstract:

Duchenne Muscular Dystrophy (DMD) is the most frequent muscular dystrophy in childhood, with a worldwide incidence of one in 5000 live male births. It is due to mutations in the dystrophin gene leading to absence of full-length dystrophin protein. Central nervous system involvement is well-known in Duchenne Muscular Dystrophy. The multiple dystrophin isoforms expressed in brain have important roles in cerebral development and functioning. The association of Duchenne Muscular Dystrophy with se...

Expand abstract
Publication status:
Published
Peer review status:
Peer reviewed

Actions


Access Document


Publisher copy:
10.1016/j.nmd.2017.07.008

Authors


Expand authors...
Publisher:
Elsevier Publisher's website
Journal:
Neuromuscular Disorders Journal website
Volume:
27
Issue:
10
Pages:
911-913
Publication date:
2017-07-19
Acceptance date:
2017-07-14
DOI:
EISSN:
1873-2364
ISSN:
0960-8966
Pmid:
28802771
Language:
English
Keywords:
Pubs id:
1092845
Local pid:
pubs:1092845
Deposit date:
2020-03-12

Terms of use


Views and Downloads






If you are the owner of this record, you can report an update to it here: Report update to this record

TO TOP