NEONATAL SPINAL MUSCULAR-ATROPHY WITH DIAPHRAGMATIC PARALYSIS IS UNLINKED TO 5Q11.2-QL3

被引：24

作者：

NOVELLI, G

CAPON, F

TAMISARI, L

GRANDI, E

ANGELINI, C

GUERRINI, P

DALLAPICCOLA, B

机构：

[1] UNIV FERRARA, IST PEDIAT, I-44100 FERRARA, ITALY

[2] UNIV FERRARA, IST ANAT, I-44100 FERRARA, ITALY

[3] UNIV PADUA, IST CLIN NEUROL, PADUA, ITALY

[4] UNIV TOR VERGATA, DIPARTIMENTO SANITA PUBBL & BIOL CELLULARE, CATTEDRA GENET UMANA, SAN GIOVANNI ROTONDO, ITALY

[5] IRCCS, OSPED CSS, SAN GIOVANNI ROTONDO, ITALY

来源：

JOURNAL OF MEDICAL GENETICS | 1995年 / 32卷 / 03期

关键词：

D O I：

10.1136/jmg.32.3.216

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Two sibs affected by the severe neonatal form of spinal muscular atrophy (SIMA) 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 SAW type I variant associated with early onset respiratory failure maps outside the 5q11.2-q13.3 region.

引用

页码：216 / 219

页数：4

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