Classification of the hereditary motor and sensory neuropathies

Current Opinion in Neurology

Volumn 13, Issue 5, 2000, Pages 561-564

  Reilly, Mary M ^a  

^a NATIONAL HOSPITAL FOR NEUROLOGY AND NEUROSURGERY   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; DISEASE CLASSIFICATION; ELECTROPHYSIOLOGY; GENE LOCUS; GENE MUTATION; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; MOTOR NERVE CONDUCTION;

CHARCOT-MARIE-TOOTH DISEASE; GENES, RECESSIVE; HEREDITARY MOTOR AND SENSORY NEUROPATHIES; HUMANS; TERMINOLOGY;

EID: 0033782833     PISSN: 13507540     EISSN: None     Source Type: Journal    
DOI: 10.1097/00019052-200010000-00009     Document Type: Article

References (26)

1. Hereditary motor and sensory neuropathies
2. Lower motor and primary sensory neuron diseases with peroneal muscular atrophy: I. Neurologic, genetic and electrophysiologic findings in hereditary polyneuropathies
3. Lower motor and primary sensory neuron diseases with peroneal muscular atrophy: II. Neurologic, genetic and electrophysiologic findings in various neuronal degenerations
4. Dejerine-Sottas syndrome associated with point mutations in the peripheral myelin protein 22 (PMP22) gene
5. De novo mutation in the myelin PO gene in Dejerine-Sottas disease (hereditary motor and sensory neuropathy type III)
6. Linkage of a locus (CMT 4A) for autosomal recessive Charcot-Marie-Tooth disease to chromosome 8q
7. Hereditary motor and sensory neuropathy-Lom, a novel demyelinating neuropathy associated with deafness in gypsies
8. Congenital Cataracts Facial Dysmorphism Neuropathy Syndrome, a novel complex genetic disease in Balkan Gypsies: Clinical and electrophysiological observations
9. Molecular basis of inherited neuropathies
10. Charcot-Marie-Tooth type 4B is caused by mutations in the gene encoding myotubularin-related protein 2
11. Identification of a new locus for autosomal recessive Charcot-Marie-Tooth disease with focally folded myelin on chromosome 11p15
12. Clinical phenotypes of different MPZ (Po) mutations may include Charcot-Marie-Tooth type 1B, Dejerine-Sottas, and congenital hypomyelination
13. Charcot-Marie-Tooth disease type 2 associated with mutations of the myelin protein zero gene
14. Recessive inheritance of a new point mutation of the PMP-22 gene in Dejerine-Sottas disease
15. Mutations in early growth response 2 (EGR2) gene are associated with hereditary myelinopathies
16. A new variant of Charcot-Marie-Tooth disease type 2 is probably the result of a mutation in the neurofilament-light gene
17. Gene for hereditary motor and sensory neuropathy (proximal dominant form) mapped to 3q13.1
18. Novel missense mutation in the early growth response 2 gene associated with Dejerine-Sottas syndrome phenotype
19. A Dejerine-Sottas neuropathy family with a gene mapped on chromosome 8
20. Congenital hypomyelination neuropathy with Ser72Leu substitution in PMP-22
21. Homozygosity mapping of an autosomal recessive form of demyelinating Charcot-Marie-Tooth disease to chromosome 5q23-q33
22. Gene mapping in Gypsies identifies a novel demyelinating neuropathy on chromosome 8q24
23. N-myc downstream-regulated gene 1 is mutated in hereditary motor and sensory neuropathy-Lom
24. Congenital cataracts facial dysmorphism neuropathy (CCFDN syndrome): A novel developmental disorder in gypsies maps to 18qter
25. Mapping of a new locus for autosomal recessive demyelinating Charcot-Marie-Tooth disease to 19q13.1-13.3 in a large consanguineous Lebanese family: Exclusion of MAG as a candidate gene
26. A locus of an axonal form of autosomal recessive Charcot-Marie-Tooth disease maps to chromosome 1q21.2-q21.3