PMID- 7849745
OWN - NLM
STAT- MEDLINE
DCOM- 19950316
LR  - 20220311
IS  - 0964-6906 (Print)
IS  - 0964-6906 (Linking)
VI  - 3 Spec No
DP  - 1994
TI  - Molecular genetics of Charcot-Marie-Tooth disease and related neuropathies.
PG  - 1503-7
AB  - Collectively, the inherited disorders of peripheral nerves represent a common 
      group of neurologic diseases. Charcot-Marie-Tooth neuropathy type 1 (CMT1) is a 
      genetically heterogeneous group of chronic demyelinating polyneuropathies with 
      loci mapping to chromosome 17 (CMT1A), chromosome 1 (CMT1B), the X chromosome 
      (CMTX) and to another unknown autosome (CMT1C). CMT1A is most often associated 
      with a tandem 1.5 megabase (Mb) duplication in chromosome 17p11.2-12, or in rare 
      patients may result from a point mutation in the peripheral myelin protein-22 
      (PMP22) gene. CMT1B is associated with point mutations in the myelin protein zero 
      (P0) gene. The molecular defect in CMT1C is unknown. X-linked Charcot-Marie-Tooth 
      neuropathy (CMTX) is associated with mutations in the connexin32 gene. 
      Charcot-Marie-Tooth neuropathy type II (CMT2) is an axonal neuropathy, also of 
      undetermined cause. One form of CMT2 maps to chromosome 1p36 (CMT2A). 
      Dejerine-Sottas disease, also called hereditary motor and sensory neuropathy type 
      III (HMSNIII), is a severe, infantile onset demyelinating polyneuropathy syndrome 
      that may be associated with point mutations in either the PMP22 gene of the P0 
      gene. Hereditary neuropathy with liability to pressure palsies (HNPP) is an 
      autosomal dominant disorder that results in a recurrent, episodic demyelinating 
      neuropathy. HNPP is associated with a 1.5 Mb deletion in chromosome 17p11.2-12 
      and may result from reduced expression of the PMP22 gene. CMT1A and HNPP are 
      apparent reciprocal duplication/deletion syndromes originating from unequal 
      crossover during germ cell meiosis.
FAU - Chance, P F
AU  - Chance PF
AD  - Division of Neurology, Children's Hospital of Philadelphia, PA 19104.
FAU - Fischbeck, K H
AU  - Fischbeck KH
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PT  - Research Support, U.S. Gov't, P.H.S.
PT  - Review
PL  - England
TA  - Hum Mol Genet
JT  - Human molecular genetics
JID - 9208958
SB  - IM
GS  - CMT1
GS  - CMT1A
GS  - CMT1B
GS  - CMT2
GS  - CMTX
MH  - Charcot-Marie-Tooth Disease/classification/*genetics
MH  - Chromosomes, Human, Pair 17
MH  - Genetic Linkage
MH  - Humans
MH  - Nervous System Diseases/*genetics
MH  - Phenotype
MH  - X Chromosome
RF  - 74
EDAT- 1994/01/01 00:00
MHDA- 1994/01/01 00:01
CRDT- 1994/01/01 00:00
PHST- 1994/01/01 00:00 [pubmed]
PHST- 1994/01/01 00:01 [medline]
PHST- 1994/01/01 00:00 [entrez]
AID - 10.1093/hmg/3.suppl_1.1503 [doi]
PST - ppublish
SO  - Hum Mol Genet. 1994;3 Spec No:1503-7. doi: 10.1093/hmg/3.suppl_1.1503.