Charcot-Marie-tooth disease due to a de novo mutation of the RAB7 gene

Neurology

Volumn 67, Issue 8, 2006, Pages 1476-1478

  Meggouh, F ^a   Bienfait, H M E ^a   Weterman, M A J ^a   De Visser, M ^a   Baas, F ^a  

^a ACADEMIC MEDICAL CENTER   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

ASPARAGINE; GENOMIC DNA; GUANOSINE TRIPHOSPHATASE; LYSINE; RAB7 PROTEIN;

ADULT; ANAMNESIS; ARTICLE; CASE REPORT; CLINICAL FEATURE; DNA EXTRACTION; ELECTROPHYSIOLOGY; FOOT ULCER; GENE DELETION; GENE DUPLICATION; GENETIC ANALYSIS; GENETIC SCREENING; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; MALE; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL;

EID: 33750312943     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/01.wnl.0000240068.21499.f5     Document Type: Article

References (6)

1. Verhoeven K, De Jonghe P Coen K, et al. Mutations in the small GTPase late endosomal protein RAB7 cause Charcot-Marie-Tooth type 2B neuropathy. Am J Hum Genet 2003;72:722-727.
2. Houlden H, King RH, Muddle JR, et al. A novel RAB7 mutation associated with ulcero-mutilating neuropathy. Ann Neurol 2004;56:586-590.
3. Kwon JM, Elliott JL, Yee WC, et al. Assignment of a second Charcot-Marie-Tooth type II locus to chromosome 3q. Am J Hum Genet 1995;57:853-858.
4. De Jonghe P, Timmerman V, FitzPatrick D, et al. Mutilating neuropathic ulcerations in a chromosome 3q13-q22 linked Charcot-Marie-Tooth disease type 2B family. J Neurol Neurosurg Psychiatry 1997;62:570-573.
5. Dawkins JL, Hulme DJ, Brahmbhatt SB, et al. Mutations in SPTLC1, encoding serine palmitoyltransferase, long chain base subunit-1, cause hereditary sensory neuropathy type I. Nat Genet 2001;27:309-312.
6. Rink J, Ghigo E, Kalaidzidis Y, Zerial M. Rab conversion as a mechanism of progression from early to late endosomes. Cell 2005;122:735-749.