title: Congenital muscular dystrophy: correlation of muscle biopsy and clinical features.
abstract: Six patients with congenital muscular dystrophy examined from January, 1990 to January, 1993 are presented. Vastus lateralis muscle biopsies were performed on all patients. Five of 6 patients had "pure" congenital muscular dystrophy without evidence of central nervous system disease. Of these 5 patients, 2 had mild courses, 2 moderate, and 1 severe. Possible correlation between severity of muscle pathology and severity of clinical course in "pure" congenital muscular dystrophy patients is discussed.
authors.affiliation: Pediatric Clinic of Catania, University of Catania, Italy.
authors.forename: E
authors.initials: E
authors.lastname: Parano
authors.forename: A
authors.initials: A
authors.lastname: Fiumara
authors.forename: R
authors.initials: R
authors.lastname: Falsperla
authors.forename: G
authors.initials: G
authors.lastname: Vita
authors.forename: R R
authors.initials: RR
authors.lastname: Trifiletti
mesh_terms: D001706:Biopsy; D002648:Child; D002675:Child, Preschool; D003238:Connective Tissue / Q000473:pathology; D003241:Consanguinity; D004576:Electromyography; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D009132:Muscles / Q000473:pathology*; D009133:Muscular Atrophy / Q000175:diagnosis / Q000235:genetics / Q000473:pathology; D009136:Muscular Dystrophies / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D009336:Necrosis; D009460:Neurologic Examination