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- W4206548249 abstract "We describe two brothers with clinical and histological findings of type 2 spinal muscular atrophy (SMA) associated with small head circumference (<2%) and normal cognitive development. No survival motor neuron (SMN) or neuronal apoptosis-inhibitory protein (NAIP) deletions were detected in these sibs, and they were discordant for the haplotypes determined by DNA markers flanking the 5q13 SMA locus. These findings support the presence of a distinct anterior horn disease unrelated to 5q13. This entity may have either autosomal recessive or X-linked inheritance. Am. J. Med. Genet. 75:193–195, 1998. © 1998 Wiley-Liss, Inc." @default.
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- W4206548249 date "1998-01-13" @default.
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- W4206548249 title "SMA type 2 unrelated to chromosome 5q13" @default.
- W4206548249 doi "https://doi.org/10.1002/(sici)1096-8628(19980113)75:2<193::aid-ajmg14>3.3.co;2-8" @default.
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