Somatic mosaicism in Charcot-Marie-Tooth type X disease

Neurology

Volumn 62, Issue 2, 2004, Pages 336-337

  Kochanski, A ^a   Nowakowski, A ^a   Kawulak, M ^a   Kabzinska D ^a   Hausmanowa Petrusewicz, I ^a  

^a MOSSAKOWSKI MEDICAL RESEARCH CENTRE   (Poland)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; AGED; ARTICLE; CLINICAL ARTICLE; CLINICAL FEATURE; CX32 GENE; DNA SEQUENCE; E208K GENE; GENE; GENE MUTATION; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; MALE; MOLECULAR GENETICS; MOSAICISM; NEUROLOGIC EXAMINATION; PRIORITY JOURNAL; SEQUENCE ANALYSIS; X CHROMOSOME LINKED DISORDER;

EID: 0842281758     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/01.WNL.0000103441.52563.02     Document Type: Article

References (4)

1. Birouk N, LeGuern E, Maisonobe T, et al. X-linked Charcot-Marie-Tooth disease with connexin 32 mutations. Neurology 1998;50:1074-1082.
2. Bergoffen J, Scherer SS, Wang S, et al. Connexin mutations in X-linked Charcot-Marie-Tooth disease. Science 1993;262:2039-2042.
3. Sorour E, Thompson P, Mac Millan J, et al. Inheritance of CMT1A duplication from mosaic father. J Med Genet 1995;32:483-485.
4. Fabrizi G, Ferrarini M, Cavallaro T, et al. Somatic and germline mosaic mutation in MPZ/P(0) mimics recessive inheritance of CMT1B. Neurology 2001;57:101-105.