title: Ullrich Congenital Muscular Dystrophy (UCMD): Clinical and Genetic Correlations.
abstract: OBJECTIVE
  Ullrich congenital muscular dystrophy (UCMD) corresponds to the severe end of the clinical spectrum of neuromuscular disorders caused by mutations in the genes encoding collagen VI (COL VI). We studied four unrelated families with six affected children that had typical UCMD with dominant and recessive inheritance.
  
  
  METHODS
  Four unrelated Iranian families with six affected children with typical UCMD were analyzed for COLVI secretion in skin fibroblast culture and the secretion of COLVI in skin fibroblast culture using quantitative RT-PCR (Q-RT-PCR), and mutation identification was performed by sequencing of complementary DNA.
  
  
  RESULTS
  COL VI secretion was altered in all studied fibroblast cultures. Two affected sibs carried a homozygous nonsense mutation in exon 12 of COL6A2, while another patient had a large heterozygous deletion in exon 5-8 of COL6A2. The two other affected sibs had homozygote mutation in exon 24 of COL6A2, and the last one was homozygote in COL6A1.
  
  
  CONCLUSIONS
  In this study, we found out variability in clinical findings and genetic inheritance among UCMD patients, so that the patient with complete absence of COLVI was severely affected and had a large heterozygous deletion in COL6A2. In contrast, the patients with homozygous deletion had mild to moderate decrease in the secretion of COL VI and were mildly to moderately affected.
authors.affiliation: Kariminejad-Najmabadi Genetic Center, Tehran-Iran.
authors.forename: Bita
authors.initials: B
authors.lastname: Bozorgmehr
authors.affiliation: Kariminejad-Najmabadi Genetic Center, Tehran-Iran.
authors.forename: Ariana
authors.initials: A
authors.lastname: Kariminejad
authors.affiliation: Shariati Hospital, Tehran, Iran.
authors.forename: Shahriar
authors.initials: S
authors.lastname: Nafissi
authors.affiliation: Pediatric Neurologist, Tehran, Iran.
authors.forename: Bita
authors.initials: B
authors.lastname: Jebelli
authors.affiliation: Hospital Marin, Paris, France.
authors.forename: Urtizberea
authors.initials: U
authors.lastname: Andoni
authors.affiliation: UPMC Univ Paris 06, IFR14, Paris, F-75013, France ; Institut de Myologie, Paris, F-75013, France.
authors.forename: Corine
authors.initials: C
authors.lastname: Gartioux
authors.affiliation: AP-HP, Groupe Hospitalier Pitié- Salpêtrière, UF Cardiogénétique et Myogénétique, Service de Biochimie Métabolique, Paris, F-75013, France.
authors.forename: Celine
authors.initials: C
authors.lastname: Ledeuil
authors.affiliation: UPMC Univ Paris 06, IFR14, Paris, F-75013, France ; Institut de Myologie, Paris, F-75013, France.
authors.forename: Valérie
authors.initials: V
authors.lastname: Allamand
authors.affiliation: AP-HP, Groupe Hospitalier Pitié- Salpêtrière, UF Cardiogénétique et Myogénétique, Service de Biochimie Métabolique, Paris, F-75013, France.
authors.forename: Pascale
authors.initials: P
authors.lastname: Richard
authors.affiliation: Kariminejad-Najmabadi Genetic Center, Tehran-Iran.
authors.forename: Mohammad-Hassan
authors.initials: MH
authors.lastname: Kariminejad
keywords: COL6A1; COL6A2; Collagen type VI; Ullrich congenital muscular dystrophy