| Literature DB >> 839501 |
R B Levisky, A M Vianna-Morgante, O Frota-Pessoa, M Scaff, A M Tsanaclis, J A Levy.
Abstract
The present report describes a sibship with 2 individuals affected by myotonic dystrophy and a third with syringomyelia. The mother was affected by myotonic dystrophy. A balanced 2/13 translocation was detected in the individual with syringomyelia, in one affected by myotonic dystrophy and in their clinically normal father. The association between the phenotypic anomalies and the chromosome alteration is coincidental.Entities:
Mesh：
Year: 1977 PMID： 839501 PMCID： PMC1013507 DOI： 10.1136/jmg.14.1.51
Source DB: PubMed Journal: J Med Genet ISSN： 0022-2593 Impact factor: 6.318