Coincidence of neurofibromatosis and myotonic dystrophy in a kindred.
J Med Genet
; 18(2): 134-8, 1981 Apr.
Article
em En
| MEDLINE
| ID: mdl-6787200
ABSTRACT
Neurofibromatosis and myotonic dystrophy have occurred in ten members of a nonconsanguineous family with a high degree of concordance. The expression of neurofibromatosis is peripheral, and the expression of myotonic dystrophy has produced at least moderately severe disability. Neither disease has appeared to alter the phenotypic expression of the other when both have occurred simultaneously. Secretor typing supports the assumption that the myotonic dystrophy in this family is the commonly recognised secretor-linked entity. The segregation pattern of the two disorders in this family suggest the possibility of close linkage between the loci for neurofibromatosis and myotonic dystrophy.
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Neurofibromatose 1
/
Distrofia Miotônica
Idioma:
En
Ano de publicação:
1981
Tipo de documento:
Article