title: Ullrich congenital muscular dystrophy and Bethlem myopathy: clinical and genetic heterogeneity.
abstract: Ullrich congenital muscular dystrophy (UCMD), due to mutations in the collagen VI genes, is an autosomal recessive form of CMD, commonly associated with distal joints hyperlaxity and severe course. A mild or moderate involvement can be occasionally observed.
  
  
  OBJECTIVE
  To evaluate the clinical picture of CMD patients with Ullrich phenotype who presented decreased or absent collagen VI immunoreactivity on muscular biopsy.
  
  
  RESULTS
  Among 60 patients with CMD, two had no expression of collagen V and their clinical involvement was essentially different: the first (3 years of follow-up) has mild motor difficulty; the second (8 years of follow-up) never acquired walking and depends on ventilatory support. A molecular study, performed by Pan et al. at the Thomas Jefferson University, demonstrated in the first a known mutation of Bethlem myopathy in COL6A1 and in the second the first dominantly acting mutation in UCMD and the first in COL6A1, previously associated only to Bethlem myopathy, with benign course and dominant inheritance.
  
  
  CONCLUSIONS
  Bethlem myopathy should be considered in the differential diagnosis of UCMD, even in patients without fingers contractures; overlap between Ullrich and Bethlem phenotypes can be supposed.
authors.affiliation: Departamento de Neurologia, Faculdade de Medicina, Universidade de São Paulo, São Paulo, Brasil. ucontireed@hcnet.usp.br
authors.forename: Umbertina Conti
authors.initials: UC
authors.lastname: Reed
authors.forename: Lucio Gobbo
authors.initials: LG
authors.lastname: Ferreira
authors.forename: Enna Cristina
authors.initials: EC
authors.lastname: Liu
authors.forename: Maria Bernadete Dutra
authors.initials: MB
authors.lastname: Resende
authors.forename: Mary Souza
authors.initials: MS
authors.lastname: Carvalho
authors.forename: Suely Kazue
authors.initials: SK
authors.lastname: Marie
authors.forename: Milberto
authors.initials: M
authors.lastname: Scaff
mesh_terms: D000293:Adolescent; D001706:Biopsy; D002648:Child; D002675:Child, Preschool; D024142:Collagen Type VI / Q000172:deficiency* / Q000235:genetics; D003937:Diagnosis, Differential; D005500:Follow-Up Studies; D018740:Genetic Heterogeneity; D006801:Humans; D007150:Immunohistochemistry; D007593:Joint Instability / Q000235:genetics / Q000473:pathology; D008297:Male; D009136:Muscular Dystrophies / Q000151:congenital / Q000235:genetics* / Q000473:pathology; D010641:Phenotype
chemical_list: D024142:Collagen Type VI