PMID- 10215406
OWN - NLM
STAT- MEDLINE
DCOM- 19990419
LR  - 20041117
IS  - 1059-7794 (Print)
IS  - 1059-7794 (Linking)
VI  - 11
IP  - 4
DP  - 1998
TI  - Identification of five new mutations and three novel polymorphisms in the muscle 
      chloride channel gene (CLCN1) in 20 Italian patients with dominant and recessive 
      myotonia congenita. Mutations in brief no. 118. Online.
PG  - 331
AB  - Autosomal dominant myotonia congenita or Thomsen's disease and autosomal
      recessive myotonia congenita or Becker's are rare nondystrophic disorders due to 
      allelic mutations of the muscle chloride channel gene, CLCN1. We have analysed
      all 24 exons of the CLCN1 gene, in a panel of 20 unrelated patients (9 with
      dominant and 11 with recessive mytotonia congenita). We have found five novel
      mutations including two missense (V5631, F708L), one nonsense (C481X), one
      splicing (IVS19+2T->A), and one frameshift (2264delC), and also detected the
      recurrent R894X mutation. These account for 10 of the 22 recessive alleles
      examined, while no mutations were found in the dominant form. We report three
      novel polymorphisms (-134T/G, 898C/A and 2154T/C). Our results support high
      molecular heterogeneity of these myotonias in Italian population and provide new 
      insight for the diagnosis and genetic counselling of these diseases.
FAU - Sangiuolo, F
AU  - Sangiuolo F
AD  - Cellulare, Universita Tor Vergata, Rome, Italy.
FAU - Botta, A
AU  - Botta A
FAU - Mesoraca, A
AU  - Mesoraca A
FAU - Servidei, S
AU  - Servidei S
FAU - Merlini, L
AU  - Merlini L
FAU - Fratta, G
AU  - Fratta G
FAU - Novelli, G
AU  - Novelli G
FAU - Dallapiccola, B
AU  - Dallapiccola B
LA  - eng
PT  - Journal Article
PL  - United States
TA  - Hum Mutat
JT  - Human mutation
JID - 9215429
RN  - 0 (CLC-1 channel)
RN  - 0 (Chloride Channels)
RN  - 0 (Muscle Proteins)
SB  - IM
MH  - Chloride Channels/*genetics
MH  - Genes, Dominant/genetics
MH  - Genes, Recessive/genetics
MH  - Humans
MH  - Italy
MH  - Muscle Proteins/*genetics
MH  - Mutation/*genetics
MH  - Myotonia Congenita/*genetics
MH  - Polymorphism, Genetic/*genetics
EDAT- 1999/04/24 02:14
MHDA- 2000/06/22 10:00
CRDT- 1999/04/24 02:14
PHST- 1999/04/24 02:14 [pubmed]
PHST- 2000/06/22 10:00 [medline]
PHST- 1999/04/24 02:14 [entrez]
AID - 10.1002/(SICI)1098-1004(1998)11:4<331::AID-HUMU12>3.0.CO;2-3 [pii]
AID - 10.1002/(SICI)1098-1004(1998)11:4<331::AID-HUMU12>3.0.CO;2-3 [doi]
PST - ppublish
SO  - Hum Mutat. 1998;11(4):331. doi:
      10.1002/(SICI)1098-1004(1998)11:4<331::AID-HUMU12>3.0.CO;2-3.