PROXIMAL MYOTONIC MYOPATHY - A REPORT OF A KINDRED

Authors
NESTOR P DENNETT X DAY B
Citation
P. Nestor et al., PROXIMAL MYOTONIC MYOPATHY - A REPORT OF A KINDRED, Journal of clinical neuroscience, 5(2), 1998, pp. 218-220
Citations number
10
Categorie Soggetti
Neurosciences,"Clinical Neurology
Journal title
Journal of clinical neuroscience → ACNP
ISSN journal
09675868
Volume
5
Issue
2
Year of publication
1998
Pages
218 - 220
Database
ISI
SICI code
0967-5868(1998)5:2<218:PMM-AR>2.0.ZU;2-2
Abstract
We describe a family an autosomal dominant myotonic myopathy with abse nce of the abnormal CTG expansion characteristic of myotonic dystrophy . We believe that the findings in this family concur with those of rec ent case reports which have postulated the existence of a new adult on set myotonic disorder, distinct from myotonic dystrophy: 'proximal myo tonic myopathy'. (C) Harcourt Brace & Co. Ltd 1998.