Hereditary motor and sensory neuropathy type 2C is genetically distinct from types 2B and 2D.
Arch Neurol
; 57(5): 669-72, 2000 May.
Article
em En
| MEDLINE
| ID: mdl-10815132
ABSTRACT
BACKGROUND:
Linkage analysis studies have identified 3 genetically different varieties of hereditary motor and sensory neuropathy type 2 (HMSN 2, also called Charcot-Marie-Tooth disease type 2, or CMT 2) HMSN 2A (linked to 1p35-p36), 2B (to 3q13-q22), and 2D (to 7p14). Hereditary motor and sensory neuropathy type 2C is characterized by diaphragmatic and vocal cord paresis; its disease locus has not been mapped.OBJECTIVE:
To determine whether the HMSN 2C phenotype, previously shown not to be linked to the HMSN 2A locus, is linked to the HMSN 2B or HMSN 2D loci.DESIGN:
Linkage analysis. SETTING AND PATIENTS Thirty-three subjects, including 12 affected individuals and 11 individuals at risk, in a large family with HMSN 2C.RESULTS:
Evidence was found against linkage of HMSN 2C phenotype to either the HMSN 2B or the 2D loci.CONCLUSIONS:
HMSN 2C is genetically distinct from HMSN 2A, 2B, and 2D. We think that at least 4 genetically distinct varieties of autosomal dominant HMSN 2 exist.
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Base de dados:
MEDLINE
Assunto principal:
Doença de Charcot-Marie-Tooth
Tipo de estudo:
Diagnostic_studies
/
Prognostic_studies
Limite:
Female
/
Humans
/
Male
Idioma:
En
Ano de publicação:
2000
Tipo de documento:
Article