伴有膈神经麻痹的新生儿脊髓性肌萎缩与5q11.2-q13无关。
Neonatal spinal muscular atrophy with diaphragmatic paralysis is unlinked to 5q11.2-q13.
作者信息
Novelli G, Capon F, Tamisari L, Grandi E, Angelini C, Guerrini P, Dallapiccola B
机构信息
Istituto di Genetica Medica, Università Cattolica del Sacro Cuore, Roma, Italy.
出版信息
J Med Genet. 1995 Mar;32(3):216-9. doi: 10.1136/jmg.32.3.216.
Two sibs affected by the severe neonatal form of spinal muscular atrophy (SMA) with diaphragmatic paralysis are described. The two sibs were discordant for the haplotypes determined by DNA markers flanking the SMA locus. This supports non-linkage of SMA to chromosome 5 in this family and indicates that the uncommon SMA type I variant associated with early onset respiratory failure maps outside the 5q11.2-q13.3 region.
本文描述了两名患有严重新生儿型脊髓性肌萎缩症（SMA）并伴有膈肌麻痹的同胞。这两名同胞在由SMA基因座侧翼的DNA标记确定的单倍型上不一致。这支持了该家族中SMA与5号染色体不连锁，并表明与早发性呼吸衰竭相关的罕见SMA I型变异位于5q11.2-q13.3区域之外。
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