Walker-Warburg syndrome: Neurologic features and muscle membrane structure

Richard J. Kanoff, Richard G. Curless, Carol Petito, Steven Falcone, R. Michael Siatkowski, Elena Pegoraro

Research output: Contribution to journalArticle

29 Citations (Scopus)

Abstract

Walker-Warburg syndrome is an autosomal-recessive genetic disorder characterized by congenital muscular dystrophy in association with complex developmental abnormalities of the central nervous system and the eyes. Two patients with Walker-Warburg syndrome are presented to demonstrate clinical variability. Previously unreported pathologic findings involving heart, muscle, spinal cord, and gall bladder are described, and the literature is reviewed. Histopathologic studies of the muscle membrane protein network in both Walker-Warburg syndrome patients reveal a decreased immunostaining for laminin α2 and β-dystroglycan. The clinical, histologic, and biochemical variability in Walker-Warburg patients may reflect heterogeneity.

Original languageEnglish
Pages (from-to)76-80
Number of pages5
JournalPediatric Neurology
Volume18
Issue number1
DOIs
StatePublished - Jan 1 1998

Fingerprint

Walker-Warburg Syndrome
Nervous System
Muscles
Membranes
Dystroglycans
Walkers
Inborn Genetic Diseases
Muscle Proteins
Muscular Dystrophies
Laminin
Spinal Cord
Myocardium
Membrane Proteins
Urinary Bladder
Central Nervous System

ASJC Scopus subject areas

  • Clinical Neurology
  • Pediatrics, Perinatology, and Child Health
  • Developmental Neuroscience
  • Neurology

Cite this

Kanoff, R. J., Curless, R. G., Petito, C., Falcone, S., Siatkowski, R. M., & Pegoraro, E. (1998). Walker-Warburg syndrome: Neurologic features and muscle membrane structure. Pediatric Neurology, 18(1), 76-80. https://doi.org/10.1016/S0887-8994(97)00137-9

Walker-Warburg syndrome : Neurologic features and muscle membrane structure. / Kanoff, Richard J.; Curless, Richard G.; Petito, Carol; Falcone, Steven; Siatkowski, R. Michael; Pegoraro, Elena.

In: Pediatric Neurology, Vol. 18, No. 1, 01.01.1998, p. 76-80.

Research output: Contribution to journalArticle

Kanoff, RJ, Curless, RG, Petito, C, Falcone, S, Siatkowski, RM & Pegoraro, E 1998, 'Walker-Warburg syndrome: Neurologic features and muscle membrane structure', Pediatric Neurology, vol. 18, no. 1, pp. 76-80. https://doi.org/10.1016/S0887-8994(97)00137-9
Kanoff, Richard J. ; Curless, Richard G. ; Petito, Carol ; Falcone, Steven ; Siatkowski, R. Michael ; Pegoraro, Elena. / Walker-Warburg syndrome : Neurologic features and muscle membrane structure. In: Pediatric Neurology. 1998 ; Vol. 18, No. 1. pp. 76-80.
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