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Molecular genetics of Charcot-Marie-Tooth disease and related neuropathies.
Hum Mol Genet. 1994; 3 Spec No:1503-7.HM

Abstract

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.

Authors+Show Affiliations

Division of Neurology, Children's Hospital of Philadelphia, PA 19104.No affiliation info available

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't
Research Support, U.S. Gov't, P.H.S.
Review

Language

eng

PubMed ID

7849745

Citation

Chance, P F., and K H. Fischbeck. "Molecular Genetics of Charcot-Marie-Tooth Disease and Related Neuropathies." Human Molecular Genetics, vol. 3 Spec No, 1994, pp. 1503-7.
Chance PF, Fischbeck KH. Molecular genetics of Charcot-Marie-Tooth disease and related neuropathies. Hum Mol Genet. 1994;3 Spec No:1503-7.
Chance, P. F., & Fischbeck, K. H. (1994). Molecular genetics of Charcot-Marie-Tooth disease and related neuropathies. Human Molecular Genetics, 3 Spec No, 1503-7.
Chance PF, Fischbeck KH. Molecular Genetics of Charcot-Marie-Tooth Disease and Related Neuropathies. Hum Mol Genet. 1994;3 Spec No:1503-7. PubMed PMID: 7849745.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Molecular genetics of Charcot-Marie-Tooth disease and related neuropathies. AU - Chance,P F, AU - Fischbeck,K H, PY - 1994/1/1/pubmed PY - 1994/1/1/medline PY - 1994/1/1/entrez SP - 1503 EP - 7 JF - Human molecular genetics JO - Hum Mol Genet VL - 3 Spec No N2 - 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. SN - 0964-6906 UR - https://www.unboundmedicine.com/medline/citation/7849745/Molecular_genetics_of_Charcot_Marie_Tooth_disease_and_related_neuropathies_ L2 - https://academic.oup.com/hmg/article-lookup/doi/10.1093/hmg/3.suppl_1.1503 DB - PRIME DP - Unbound Medicine ER -