Apparent autosomal recessive inheritance in families with proximal spinal muscular atrophy affecting individuals in two generations.
Rudnik-Schöneborn
S
S
Zerres
K
K
Hahnen
E
E
Meng
G
G
Voit
T
T
Hanefeld
F
F
Wirth
B
B
D000293:Adolescent; D000328:Adult; D017668:Age of Onset; D002675:Child, Preschool; D017362:Cyclic AMP Response Element-Binding Protein; D005260:Female; D017353:Gene Deletion; D020022:Genetic Predisposition to Disease; D006801:Humans; D007223:Infant; D008297:Male; D009134:Muscular Atrophy, Spinal / Q000453:epidemiology / Q000235:genetics*; D009419:Nerve Tissue Proteins / Q000235:genetics*; D010375:Pedigree; D016601:RNA-Binding Proteins; D055532:SMN Complex Proteins
D017362:Cyclic AMP Response Element-Binding Protein; D009419:Nerve Tissue Proteins; D016601:RNA-Binding Proteins; D055532:SMN Complex Proteins