Article
[Congenital myopathy associated with cutis laxa].
Archivos de neurobiologia - 1 Jan 2000
Martín R, Febrer I, Lainez J M, Romero A, Sancho J, Cerdá J M
Abstract excerpt
Congenital myopathies have been described in association with systemic and skin anomalies but not with cutis laxa. De Barsey syndrome relates cutis laxa with neurological alterations and muscular hypotonia, but electromyographic nor muscular pathological studies have been made in previously reported cases. We report a case associating two major features: cutis laxa and congenital myopathy, both confirmed by...
Topics
- Adolescent
- Biopsy
- Cutis Laxa
- Epilepsy
- Female
- Humans
- Intellectual Disability
- Muscular Diseases
- Phenotype
- Syndrome