[Distal spinal-muscular atrophy 1 (DSMA1 or SMARD1)].
In this article, we review the clinical, neuropathological and genetic aspects of distal spinal-muscular atrophy 1 (DSMA1; MIM#604320), formerly designated as autosomal recessive spinal muscular atrophy with respiratory distress type 1 (SMARD1) and also known as distal hereditary-motor neuropathy type 6 (dHMN6 or HMN6).
Kaindl
A M
AM
Charité, service de neuropédiatrie, hôpital universitaire, campus Virchow-Klinikum, Augustenburger Platz 1, 13353 Berlin, Allemagne. kaindl@rdebre.inserm.fr
Guenther
U-P
UP
Rudnik-Schöneborn
S
S
Varon
R
R
Zerres
K
K
Gressens
P
P
Schuelke
M
M
Hubner
C
C
von Au
K
K
D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D009134:Muscular Atrophy, Spinal / Q000175:diagnosis* / Q000235:genetics; D011247:Pregnancy; D011296:Prenatal Diagnosis; D012127:Respiratory Distress Syndrome, Newborn / Q000209:etiology