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Absence of linkage with the Duffy blood group in a family with Charcot-Marie-Tooth neuropathy.
Raeymaekers, P; De Jonghe, P; Swerts, L; Muylle, L; Gheuens, J; Martin, J J; Van Broeckhoven, C; Vandenberghe, A.
Afiliação
  • Raeymaekers P; Department of Biochemistry, University of Antwerp, Wilrijk, Belgium.
J Neurol Sci ; 88(1-3): 145-50, 1988 Dec.
Article em En | MEDLINE | ID: mdl-3225617
We report a large Belgian family with Charcot-Marie-Tooth disease (CMT) or hereditary motor and sensory neuropathy type I (HMSN-I). The pedigree consists of 5 generations with 350 family members comprising 42 patients. The disease is transmitted according to an autosomal dominant inheritance pattern. Several HMSN-I families have been reported to be closely linked to the Duffy blood group marker on chromosome 1. These families were designated HMSN-Ib families, opposed to the HMSN-Ia families which do not show evidence for such a linkage. Therefore we examined our family for the Duffy linkage relationship. We found no evidence for a strong linkage of the disease to the Duffy blood group locus, indicating that this family is of genetic subtype Ia.
Assuntos
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Base de dados: MEDLINE Assunto principal: Antígenos de Grupos Sanguíneos / Atrofia Muscular Espinal / Doença de Charcot-Marie-Tooth / Sistema do Grupo Sanguíneo Duffy / Ligação Genética Limite: Female / Humans / Male Idioma: En Ano de publicação: 1988 Tipo de documento: Article
Buscar no Google
Base de dados: MEDLINE Assunto principal: Antígenos de Grupos Sanguíneos / Atrofia Muscular Espinal / Doença de Charcot-Marie-Tooth / Sistema do Grupo Sanguíneo Duffy / Ligação Genética Limite: Female / Humans / Male Idioma: En Ano de publicação: 1988 Tipo de documento: Article