2 SIBLINGS WITH NEMALINE MYOPATHY PRESENTING WITH RIGID-SPINE-SYNDROME

Authors
TOPALOGLU H GOGUS S YALAZ K KUCUKALI T SERDAROGLU A
Citation
H. Topaloglu et al., 2 SIBLINGS WITH NEMALINE MYOPATHY PRESENTING WITH RIGID-SPINE-SYNDROME, Neuromuscular disorders, 4(3), 1994, pp. 263-267
Citations number
21
Categorie Soggetti
Neurosciences,"Clinical Neurology
Journal title
Neuromuscular disorders → ACNP
ISSN journal
09608966
Volume
4
Issue
3
Year of publication
1994
Pages
263 - 267
Database
ISI
SICI code
0960-8966(1994)4:3<263:2SWNMP>2.0.ZU;2-V
Abstract
Two siblings, ages 20 and 19 presented with more than 10 yr history of spinal rigidity and scoliosis. The parents were first cousins. Muscle biopsies were consistent with nemaline myopathy. This has been the fi rst association between a familial rigid spine syndrome and nemaline m yopathy.