Spinal muscular atrophy with lower extremity predominance
Dominant spinal muscular atrophy with lower extremity predominance: linkage to 14q32.A DYNC1H1 mutation causes a dominant spinal muscular atrophy with lower extremity predominance.Exome Sequencing Identifies DYNC1H1 Variant Associated With Vertebral Abnormality and Spinal Muscular Atrophy With Lower Extremity Predominance.A novel DYNC1H1 mutation causing spinal muscular atrophy with lower extremity predominance.Autosomal dominant spinal muscular atrophy with lower extremity predominance: A recognizable phenotype of BICD2 mutations.
P921
Spinal muscular atrophy with lower extremity predominance
description
rare neuromuscular disorder of infants characterised by severe progressive muscle atrophy
@en
name
Spinal muscular atrophy with lower extremity predominance
@en
amyotrophie spinale proximale autosomique dominante de l'enfance sans contractures
@fr
type
label
Spinal muscular atrophy with lower extremity predominance
@en
amyotrophie spinale proximale autosomique dominante de l'enfance sans contractures
@fr
prefLabel
Spinal muscular atrophy with lower extremity predominance
@en
amyotrophie spinale proximale autosomique dominante de l'enfance sans contractures
@fr
P6366
P1550
P2293
P492
P6366
2781305479
P7464
spinal-muscular-atrophy-with-lower-extremity-predominance