PMID- 10644431
OWN - NLM
STAT- MEDLINE
DCOM- 20000302
LR  - 20101118
IS  - 0888-7543 (Print)
IS  - 0888-7543 (Linking)
VI  - 62
IP  - 3
DP  - 1999 Dec 15
TI  - Identification of a new locus for autosomal recessive Charcot-Marie-Tooth disease
      with focally folded myelin on chromosome 11p15.
PG  - 344-9
AB  - Autosomal recessive Charcot-Marie-Tooth disease type 4B (CMT4B) is a
      demyelinating hereditary motor and sensory neuropathy characterized by abnormal
      folding of myelin sheaths. A locus for CMT4B has previously been mapped to
      chromosome 11q23 in a southern Italian pedigree. We initially excluded linkage in
      two Tunisian families with CMT4B to chromosome 11q23, demonstrating genetic
      heterogeneity within the CMT4B phenotype. Subsequently, using homozygosity
      mapping and linkage analysis in the largest Tunisian pedigree, we mapped a new
      locus to chromosome 11p15. A maximum two-point lod score of 6.05 was obtained
      with the marker D11S1329. Recombination events refined the CMT4B locus region to 
      a 5.6-cM interval between markers D11S1331 and D11S4194. The second Tunisian
      CMT4B family was excluded from linkage to the new locus, demonstrating the
      existence of at least a third locus for the CMT4B phenotype.
CI  - Copyright 1999 Academic Press.
FAU - Othmane, K B
AU  - Othmane KB
AD  - Division of Neurology, Duke University Medical Center, Durham, North Carolina
      27710-2903, USA.
FAU - Johnson, E
AU  - Johnson E
FAU - Menold, M
AU  - Menold M
FAU - Graham, F L
AU  - Graham FL
FAU - Hamida, M B
AU  - Hamida MB
FAU - Hasegawa, O
AU  - Hasegawa O
FAU - Rogala, A D
AU  - Rogala AD
FAU - Ohnishi, A
AU  - Ohnishi A
FAU - Pericak-Vance, M
AU  - Pericak-Vance M
FAU - Hentati, F
AU  - Hentati F
FAU - Vance, J M
AU  - Vance JM
LA  - eng
GR  - NS26330/NS/NINDS NIH HHS/United States
GR  - NS35213/NS/NINDS NIH HHS/United States
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PT  - Research Support, U.S. Gov't, P.H.S.
PL  - United States
TA  - Genomics
JT  - Genomics
JID - 8800135
RN  - 0 (Genetic Markers)
SB  - IM
MH  - Charcot-Marie-Tooth Disease/*genetics
MH  - Chromosome Mapping
MH  - Chromosomes, Human, Pair 11/*genetics
MH  - Consanguinity
MH  - Female
MH  - *Genes, Recessive
MH  - Genetic Linkage
MH  - Genetic Markers
MH  - Genetic Testing
MH  - Genotype
MH  - Haplotypes
MH  - Humans
MH  - Lod Score
MH  - Male
MH  - Myelin Sheath/*genetics
MH  - Neural Conduction/genetics
MH  - Pedigree
MH  - Phenotype
MH  - *Protein Folding
MH  - Tunisia
EDAT- 2000/01/25 09:00
MHDA- 2000/03/04 09:00
CRDT- 2000/01/25 09:00
PHST- 2000/01/25 09:00 [pubmed]
PHST- 2000/03/04 09:00 [medline]
PHST- 2000/01/25 09:00 [entrez]
AID - 10.1006/geno.1999.6028 [doi]
AID - S0888-7543(99)96028-7 [pii]
PST - ppublish
SO  - Genomics. 1999 Dec 15;62(3):344-9. doi: 10.1006/geno.1999.6028.