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  • Title: [The spectrum of spinal muscular atrophies: a population study].
    Author: Rudenskaia GE, Mamedova RA.
    Journal: Zh Nevrol Psikhiatr Im S S Korsakova; 1997; 97(8):22-5. PubMed ID: 9343477.
    Abstract:
    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).
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