Article
Lethal neonatal autosomal recessive axonal sensorimotor polyneuropathy.
Muscle & nerve - 1 Nov 1998
Vedanarayanan V V, Smith S, Subramony S H, Bock G O, Evans O B
Abstract excerpt
Peripheral neuropathy is an uncommon cause of generalized hypotonia and weakness in infancy. It occurs as a part of the clinical syndrome in some neurodegenerative disorders of infancy, but seldom causes respiratory failure or swallowing difficulties. We report a lethal autosomal recessive axonal...
Topics
- Age of Onset
- Biopsy
- Family Health
- Fatal Outcome
- Female
- Genes, Recessive
- Hereditary Sensory and Motor Neuropathy
- Humans
- Infant
- Infant, Newborn
- Infant, Newborn, Diseases
- Male
- Mississippi
- Nerve Fibers, Myelinated
- Pedigree
- Phenotype
- Pregnancy
- Respiration