SMN gene analysis of the spinal form of Charcot-Marie-Tooth disease

Journal of Medical Genetics

Volumn 34, Issue 6, 1997, Pages 507-508

  Hanash, Alan ^a   Leguern, Eric ^b   Birouk, Nazha ^b   Clermont, Olivier ^a   Pouget, Jean ^c   Bouche, Pierre ^b   Munnich, Arnold ^a   Brice, Alexis ^b   Melki, Judith ^a  

^a HÔPITAL NECKER ENFANTS MALADES   (France)

^b PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^c TIMONE HOSPITAL   (France)

Author keywords

Charcot Marie Tooth disease; Spinal muscular atrophy; Survival motor neurone gene

Indexed keywords

ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CHILD; CHROMOSOME 5Q; CLINICAL ARTICLE; CONTROLLED STUDY; EXON; FEMALE; GENE DELETION; GENE LOCUS; GENE MUTATION; GENE SEGREGATION; GENETIC ANALYSIS; GENETIC LINKAGE; HAPLOTYPE; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; MALE; MOTONEURON; PRIORITY JOURNAL; SPINAL MUSCULAR ATROPHY;

EID: 0030983495     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.34.6.507     Document Type: Article

References (14)

1. Harding AE, Thomas PK. Hereditary distal spinal muscular atrophy: report on 34 cases and a review of the literature. J Neurol Sci 1980;45:337-48.
2. Boylan KB, Cornblath DR, Glass JD, et al. Autosomal dominant distal spinal muscular atrophy in four generations. Neurology 1995;45:699-704.
3. Harding AE. Inherited neuronal atrophy and degeneration predominantly of lower motor neurons. In: Dyck PJ, ed. Diseases of the peripheral nervous system. Philadelphia: Saunders, 1984:1537-655.
4. Christodoulou K, Kyriakides T, Hristova AH, et al. Mapping of a distal form of spinal muscular atrophy with upper limb predominance to chromosome 7p. Hum Mol Genet 1995;4:1629-32.
5. Timmerman V, De Jonghe P, Simokovic S, et al. Distal hereditary motor neuropathy type II (distal HMN II): mapping of a locus to chromosome 12q24. Hum Mol Genet 1996;5:1065-9.
6. Lefebvre S, Bürglen L, Reboullet S, et al. Identification and characterization of a spinal muscular atrophy-determining gene. Cell 1995;80:155-65.
7. Van der Steege G, Grootscholten PM, van der Vlies P, et al. PCR-based test to confirm clinical diagnosis of autosomal recessive spinal muscular atrophy. Lancet 1995;345:985-6.
8. Rodrigues NR, Owen N, Talbot K, Ignatius J, Dubowitz V, Davies KE. Deletions in the survival motor neuron gene on 5q13 in autosomal recessive spinal muscular atrophy. Hum Mol Genet 1995;4:631-4.
9. Bürglen L, Spiegel R, Ignatius J, et al. SMN gene deletion in variant of infantile spinal muscular atrophy. Lancet 1995;346:316-17.
10. Soares VM, Brzustowicz LM, Kleyn PW, et al. Refinement of the spinal muscular atrophy locus to the interval between D5S435 and MAP-1B. Genomics 1993;15:365-71.
11. Hudson TJ, Engelstein M, Lee MK, et al. Isolation and chromosomal assignment of 100 highly informative human simple sequence repeat polymorphisms. Genomics 1992;13:622-9.
12. Melki J, Lefebvre S, Bürglen L, et al. De novo and inherited deletions of the 5q13 region in spinal muscular atrophies. Science 1994;264:1474-7.
13. Hazan J, Dubay C, Pankowiak MP, et al. A genetic linkage map of human chromosome 20 composed entirely of microsatellite markers. Genomics 1992;12:183-9.
14. Timmerman V, Raeymaekers P, Nelis E, et al. Linkage analysis of distal hereditary motor neuropathy type II (distal HMN II) in a single pedigree. J Neurol Sci 1992;109:41-8.