Congenital muscular dystrophies: clinical review and proposed classification

E Parano; L Pavone; A Fiumara; R Falsaperla; R R Trifiletti; W B Dobyns

doi:10.1016/0887-8994(95)00148-9

Congenital muscular dystrophies: clinical review and proposed classification

Pediatr Neurol. 1995 Sep;13(2):97-103. doi: 10.1016/0887-8994(95)00148-9.

Authors

E Parano¹, L Pavone, A Fiumara, R Falsaperla, R R Trifiletti, W B Dobyns

Affiliation

¹ Division of Pediatric Neurology, University of Catania, Italy.

PMID: 8534290
DOI: 10.1016/0887-8994(95)00148-9

Abstract

The clinical spectrum of the congenital muscular dystrophies is reviewed using as a sample population 10 Sicilian patients with various clinical subtypes. A comprehensive classification scheme for the muscular dystrophies is presented based on recent advances in our understanding of this heterogeneous group of syndromes.

Publication types

Case Reports
Research Support, Non-U.S. Gov't
Review

MeSH terms

Biopsy
Child
Child, Preschool
Consanguinity
Diseases in Twins / genetics
Electromyography
Female
Humans
Infant
Male
Muscle, Skeletal / pathology
Muscular Dystrophies / classification
Muscular Dystrophies / genetics*
Muscular Dystrophies / physiopathology
Neurologic Examination
Peripheral Nerves / physiopathology
Synaptic Transmission / genetics
Synaptic Transmission / physiology
Syndrome
Twins, Monozygotic