Congenital muscular dystrophies: clinical review and proposed classification.
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.
Division of Pediatric Neurology, University of Catania, Italy.
E
E
Parano
L
L
Pavone
A
A
Fiumara
R
R
Falsaperla
R R
RR
Trifiletti
W B
WB
Dobyns
D001706:Biopsy; D002648:Child; D002675:Child, Preschool; D003241:Consanguinity; D004200:Diseases in Twins / Q000235:genetics; D004576:Electromyography; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D018482:Muscle, Skeletal / Q000473:pathology; D009136:Muscular Dystrophies / Q000145:classification / Q000235:genetics* / Q000503:physiopathology; D009460:Neurologic Examination; D010525:Peripheral Nerves / Q000503:physiopathology; D009435:Synaptic Transmission / Q000235:genetics / Q000502:physiology; D013577:Syndrome; D014430:Twins, Monozygotic