Localization of the gene for distal hereditary motor neuronopathy VII (dHMN-VII) to chromosome 2q14

American Journal of Human Genetics

Volumn 68, Issue 5, 2001, Pages 1270-1276

  McEntagart, Meriel ^a   Norton, Nadine ^a   Williams, Hywel ^a   Teare, M Dawn ^b   Dunstan, Melanie ^a   Baker, Philip ^d   Houlden, Henry ^e   Reilly, Mary ^e   Wood, Nick ^e   Harper, Peter S ^a   Futreal, P Andrew ^c   Williams, Nigel ^a   Rahman, Nazneen ^a  

^a UNIVERSITY HOSPITAL OF WALES   (United Kingdom)

^b UNIVERSITY OF CAMBRIDGE   (United Kingdom)

^c WELLCOME TRUST SANGER INSTITUTE   (United Kingdom)

^d HAWKE S BAY HOSPITAL   (New Zealand)

^e UNIVERSITY COLLEGE LONDON   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; AUTOSOMAL DOMINANT DISORDER; CHROMOSOME 2Q; GENE LOCATION; GENE MUTATION; GENE SEGREGATION; GENETIC LINKAGE; HEREDITARY SPINAL MUSCULAR ATROPHY; HUMAN; MAJOR CLINICAL STUDY; MUSCLE ATROPHY; PEDIGREE ANALYSIS; PRIORITY JOURNAL; VOCAL CORD PARALYSIS;

EID: 0035007358     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/320122     Document Type: Article

References (24)

1. Hereditary distal muscular atrophy with vocal cord paralysis and sensorineural hearing loss: A dominant form of spinal muscular atrophy?
2. Short GCG expansions in the PABP2 gene cause oculopharyngeal muscular dystrophy
3. Mapping of a distal form of spinal muscular atrophy with upper limb predominance to chromosome 7p
4. A novel form of distal hereditary motor neuronopathy maps to chromosome 9p21.1-p12
5. Expression patterns of the homeo box-containing genes En-1 and En-2 and the proto-oncogene int-1 diverge during mouse development
6. 2nd Workshop of the European CMT Consortium: 53rd ENMC international workshop on classification and diagnostic guidelines for Charcot-Marie-Tooth type 2 (CMT2-HMSN-II) and distal hereditary motor neuropathy (distal HMN-spinal CMT), September 26-28, 1997, Naarden, The Netherlands
7. Varying occurrence of vocal cord paralysis in a family with autosomal dominant hereditary motor and sensory neuropathy
8. Hereditary motor and sensory neuropathy with diaphragm and vocal cord paresis
9. Diaphragmatic spinal muscular atrophy with respiratory distress is heterogeneous, and one form is linked to chromosome 11q13-q21
10. Inherited neuronal atrophy and degeneration predominantly of lower motor neurons
11. Hereditary distal spinal muscular atrophy: A report on 34 cases and a review of the literature
12. Autosomal dominant Charcot-Marie-Tooth axonal neuropathy mapped on chromosome 7p (CMT2D)
13. Inherited peripheral neuropathy
14. A unique point mutation in the PMP22 gene is associated with Charcot-Marie-Tooth and deafness
15. Distal hereditary motor neuronopathy of the Jerash type
16. Distal spinal muscular atrophy with vocal cord paralysis
17. Autosomal dominant distal spinal muscular atrophy type V (dSMA-V) and Charcot-Marie-Tooth disease type 2D (CMT2D) segregate within a single large kindred and map to a refined region on chromosome 7p15
18. Engrailed-1 and Nectrin-1 regulate axon pathfinding by association interneurons that project to motor neurons
19. Amyotrophie spinale chronique avec paralysie des cordes vocales: Syndrome de Young et Harper
20. Distal hereditary motor neuropathy type II (distal HMN II): Mapping of a locus to chromosome 12q24
21. Localisation of the gene for a dominant congenital spinal muscular atrophy predominantly affecting the lower limbs to chromosome 12q23-q24
22. Genetic heterogeneity in Charcot-Marie-Tooth neuropathy type 2
23. Hereditary distal spinal muscular atrophy with vocal cord paralysis
24. Molecular characterisation of two mammalian bHLH-PAS domain proteins selectively expressed in the central nervous system