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| 31. |
Paramyotonia congenita and myotonic dystrophy are not allelic disorders |
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Cytogenetic and Genome Research,
Volume 50,
Issue 2-3,
1989,
Page 176-177
M. Koch,
H. Harley,
T. Grimm,
M. Sarfarazi,
B. Müller,
B. Zoll,
P.S. Harper,
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PDF (343KB)
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ISSN:1424-8581
DOI:10.1159/000132755
出版商:S. Karger AG
年代:1989
数据来源: Karger
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| 32. |
Exclusion analysis of Charcot-Marie-Tooth neuropathy (CMT1) with chromosome 1p markers |
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Cytogenetic and Genome Research,
Volume 50,
Issue 2-3,
1989,
Page 178-180
P. Raeymaekers,
P. De Jonghe,
L. Swerts,
G. De Winter,
J. Gheuens,
J.-J. Martin,
A. Vandenberghe,
C. Van Broeckhoven,
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PDF (577KB)
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摘要:
We previously described a large five-generation family with autosomal dominant inheritance of hereditary motor and sensory neuropathy type I, or Charcot-Marie-Tooth disease (CMT1). The genetic defect in this family was not linked to the Duffy blood group. We investigated the possibility of a disease locus on the short arm of chromosome 1 using 12 anonymous DNA markers. Two markers, D1S2 and D1S22, showed positive linkage, suggesting the existence of a CMT1 locus on 1p. D1S2 and D1S22 are clustered in the 1p31→p22 region. However, multipoint linkage analysis, including additional DNA markers from this chromosome region, excluded a possible CMT1 locus in this part of chromosome
ISSN:1424-8581
DOI:10.1159/000132756
出版商:S. Karger AG
年代:1989
数据来源: Karger
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