[The spectrum of spinal muscular atrophies: a population study].
A population medical genetic study of spinal muscular atrophies (SMA) was carried out in 1800 individuals in 6 russian and 3 middle asian regions. 33 patients with SMA were ascertained including 29 with autosomal recessive childhood proximal SMA (SMA I-III) and 4 patients with rare SMA types. There were revealed either overlapping of diagnostic criteria of I-III types in some patients or interfamilial differences of types in 3 from 6 familial cases, (one of them with distant relatives affected as well as pronounced clinical genetic variability of rare forms of SMA (all sporadic cases).
Rudenskaia
G E
GE
Mamedova
R A
RA
D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D005260:Female; D005828:Genetics, Population; D006801:Humans; D008297:Male; D008875:Middle Aged; D009134:Muscular Atrophy, Spinal / Q000175:diagnosis / Q000235:genetics*; D010375:Pedigree; D011110:Polymorphism, Genetic; D014897:Spinal Muscular Atrophies of Childhood / Q000175:diagnosis / Q000235:genetics*