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Infantile spinal muscular atrophy: Therapeutic (R)evolution

Abstract:

Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder. The infantile form is the most common genetic cause of infantile death due to respiratory insufficiency. The disorder is caused by the premature death of motor neurons of anterior horn, leading to progressive weakness and muscular atrophy. Longtime considered as untreatable, the pathology knew a real revolution during the last two years. Views on this terrible disease have completely changed, changing, therefore,...

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Publication status:
Published
Peer review status:
Peer reviewed

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Division:
MSD
Department:
Paediatrics
Oxford college:
Kellogg College
Role:
Author
ORCID:
0000-0001-9270-4061
Publisher:
Université de Liège, Faculté de Médecine Publisher's website
Journal:
Revue Medicale de Liege Journal website
Volume:
74
Issue:
2
Pages:
82-85
Publication date:
2019-01-01
ISSN:
0370-629X
Pmid:
30793560
Language:
French
Keywords:
Pubs id:
1092907
Local pid:
pubs:1092907
Deposit date:
2020-03-12

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