PMID- 10399756
OWN - NLM
STAT- MEDLINE
DCOM- 19990901
LR  - 20191024
IS  - 0960-8966 (Print)
IS  - 0960-8966 (Linking)
VI  - 9
IP  - 4
DP  - 1999 Jun
TI  - A novel de novo mutation in the triple helix of the COL6A3 gene in a
      two-generation Italian family affected by Bethlem myopathy. A diagnostic approach
      in the mutations' screening of type VI collagen.
PG  - 264-71
AB  - Bethlem myopathy is an autosomal dominant inherited disease producing a mild
      neuromuscular disorder, characterized mainly by muscular weakness and multiple
      joint contractures. Bethlem myopathy is caused by mutations in one of the three
      chains of collagen type VI. Here we report the clinical description and the
      molecular characterization of the defect in a two-generation Italian family in
      which a Gly-->Arg substitution disrupts the triple helix structure of the alpha 3
      chain of collagen type VI, an ubiquitous glycoprotein of the extracellular
      matrix. In this family the identification of the mutation also allowed one to
      exclude the disease in the grandfather. It is noteworthy that the father of the
      proband carries a de novo mutation, the first described for Bethlem myopathy.
FAU - Pepe, G
AU  - Pepe G
AD  - Department of Biology, University of Rome Tor Vergata, Italy.
      pepe@bio.uniroma2.it
FAU - Bertini, E
AU  - Bertini E
FAU - Giusti, B
AU  - Giusti B
FAU - Brunelli, T
AU  - Brunelli T
FAU - Comeglio, P
AU  - Comeglio P
FAU - Saitta, B
AU  - Saitta B
FAU - Merlini, L
AU  - Merlini L
FAU - Chu, M L
AU  - Chu ML
FAU - Federici, G
AU  - Federici G
FAU - Abbate, R
AU  - Abbate R
LA  - eng
GR  - AR38912/AR/NIAMS NIH HHS/United States
GR  - AR38923/AR/NIAMS NIH HHS/United States
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PT  - Research Support, U.S. Gov't, P.H.S.
PL  - England
TA  - Neuromuscul Disord
JT  - Neuromuscular disorders : NMD
JID - 9111470
RN  - 63231-63-0 (RNA)
RN  - 9007-34-5 (Collagen)
RN  - 9007-49-2 (DNA)
SB  - IM
MH  - Adult
MH  - Amino Acid Substitution/genetics
MH  - Cells, Cultured
MH  - Child
MH  - Collagen/*genetics
MH  - DNA/chemistry/*genetics
MH  - DNA Mutational Analysis
MH  - Female
MH  - Fibroblasts
MH  - Heteroduplex Analysis
MH  - Humans
MH  - Male
MH  - Muscle, Skeletal/pathology
MH  - Mutation/*genetics
MH  - Neuromuscular Diseases/*diagnosis/*genetics/pathology
MH  - Pedigree
MH  - Polymorphism, Genetic
MH  - RNA/genetics/isolation & purification
MH  - Reverse Transcriptase Polymerase Chain Reaction
MH  - Sequence Analysis, DNA
MH  - Skin/pathology
EDAT- 1999/07/10 00:00
MHDA- 1999/07/10 00:01
CRDT- 1999/07/10 00:00
PHST- 1999/07/10 00:00 [pubmed]
PHST- 1999/07/10 00:01 [medline]
PHST- 1999/07/10 00:00 [entrez]
AID - S0960-8966(99)00014-0 [pii]
AID - 10.1016/s0960-8966(99)00014-0 [doi]
PST - ppublish
SO  - Neuromuscul Disord. 1999 Jun;9(4):264-71. doi: 10.1016/s0960-8966(99)00014-0.