[Proximal autosomal recessive types of spinal muscular atrophy].
One hundred and three patients with spinal muscular atrophy (SMA) were registered in a population medical genetic study of autosomal recessive childhood proximal SMA in Saratov region. Twenty-five patients were investigated complexly, using biochemical analysis of some enzymes, electroneuromyography, magnetic resonance imaging of spinal cord, muscle biopsy and molecular genetic testing. Pronounced clinical polymorphism and genetic heterogeneity of the disease were revealed.
Kolokolov
O V
OV
Iudina
G K
GK
Solovykh
N N
NN
Evgrafov
O V
OV
D001706:Biopsy; D002648:Child; D002895:Chromosomes, Human, Pair 5 / Q000235:genetics*; D017362:Cyclic AMP Response Element-Binding Protein; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D018482:Muscle, Skeletal / Q000473:pathology; D009419:Nerve Tissue Proteins / Q000235:genetics*; D017354:Point Mutation / Q000235:genetics; D016601:RNA-Binding Proteins; D055532:SMN Complex Proteins; D013116:Spinal Cord / Q000473:pathology; D014897:Spinal Muscular Atrophies of Childhood / Q000175:diagnosis / Q000235:genetics*
D017362:Cyclic AMP Response Element-Binding Protein; D009419:Nerve Tissue Proteins; D016601:RNA-Binding Proteins; D055532:SMN Complex Proteins