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SMA type 2 unrelated to chromosome 5q13

โœ Scribed by Nevo, Yoram; Kramer, Uri; Legum, Cyril; Shomrat, Ruth; Fatal, Aviva; Soffer, Dov; Harel, Shaul; Shapira, Yehudah

Publisher
John Wiley and Sons
Year
1998
Tongue
English
Weight
16 KB
Volume
75
Category
Article
ISSN
0148-7299
DOI
10.1002/(sici)1096-8628(19980113)75:2<193::aid-ajmg14>3.0.co;2-k

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โœฆ Synopsis

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.

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