Coincidence of neurofibromatosis and myotonic dystrophy in a kindred.
AUTOR(ES)
Ichikawa, K
RESUMO
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.
ACESSO AO ARTIGO
http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=1048686Documentos Relacionados
- Coincidence of myotonic dystrophy and Down's syndrome (trisomy 21)
- Myotonic dystrophy and hyperparathyroidism: association with neurofibromatosis and multiple endocrine adenomatosis type 2A.
- Hereditary multiple exostoses: report of a kindred.
- Phenotypic variation of tuberous sclerosis in a single extended kindred.
- Study of a form of pulverulent cataract in a large kindred.