Infantile spinal muscular atrophy (SMA)

Arch Pediatr. 2020 Dec;27(7S):7S1-7S2. doi: 10.1016/S0929-693X(20)30268-2.

Authors

B Chabrol¹, I Desguerre²

Affiliations

¹ Centre de référence des maladies neuromusculaires de l'Enfant, Neuromuscular Commission of French Society of Pediatric Neurology, Filière FINELMUS, Hôpital d'Enfants, CHU Timone, 13385 Marseille cedex 5. Electronic address: [email protected].
² Centre de référence des maladies neuromusculaires de l'Enfant, Neuromuscular Commission of French Society of Pediatric Neurology, Filière FINELMUS, Hôpital Necker, rue de Sèvres, 75015 Paris.

PMID: 33357590
DOI: 10.1016/S0929-693X(20)30268-2

No abstract available

Publication types

Editorial
Introductory Journal Article

MeSH terms

Early Diagnosis
Genetic Markers
Humans
Spinal Muscular Atrophies of Childhood* / diagnosis
Spinal Muscular Atrophies of Childhood* / genetics
Spinal Muscular Atrophies of Childhood* / therapy
Survival of Motor Neuron 1 Protein / genetics
Survival of Motor Neuron 2 Protein / genetics

Substances

Genetic Markers
SMN1 protein, human
SMN2 protein, human
Survival of Motor Neuron 1 Protein
Survival of Motor Neuron 2 Protein