Genetic heterogeneity in miyoshi-type distal muscular dystrophy

W. H.J.P. Linssen; M. De Visser; N. C. Notermans; J. P. Vreyling; P. A. Van Doorn; J. H.J. Wokke; F. Baas; P. A. Bolhuis

doi:10.1016/S0960-8966(98)00020-0

Genetic heterogeneity in miyoshi-type distal muscular dystrophy

W. H.J.P. Linssen, M. De Visser, N. C. Notermans, J. P. Vreyling, P. A. Van Doorn, J. H.J. Wokke, F. Baas, P. A. Bolhuis

Research output: Contribution to journal › Article › Academic › peer-review

46 Citations (Scopus)

Abstract

Miyoshi-type distal muscular dystrophy (MMD) is an autosomal recessively inherited progressive disorder. The putative locus of MMD is linked to the limb-girdle muscular dystrophy 2B locus on chromosome 2p12-14. In this study three of four MMD pedigrees show nonlinkage to the region spanned by D2S134-D2S358-D2S145 on chromosome 2p, indicating genetic heterogeneity. A genome wide screen was performed to identify loci linked to MMD. In two non-chromosome 2-linked families, a 23 cM region on chromosome 10 segregated with MMD.

Original language	English
Pages (from-to)	317-320
Number of pages	4
Journal	Neuromuscular Disorders
Volume	8
Issue number	5
DOIs	https://doi.org/10.1016/S0960-8966(98)00020-0
Publication status	Published - Jun 1998

Keywords

Chromosome 10
Chromosome 2p12-14
Genetic heterogeneity
Genome wide screen
Linkage-analysis
Miyoshi-type distal muscular dystrophy

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10.1016/S0960-8966(98)00020-0

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title = "Genetic heterogeneity in miyoshi-type distal muscular dystrophy",

abstract = "Miyoshi-type distal muscular dystrophy (MMD) is an autosomal recessively inherited progressive disorder. The putative locus of MMD is linked to the limb-girdle muscular dystrophy 2B locus on chromosome 2p12-14. In this study three of four MMD pedigrees show nonlinkage to the region spanned by D2S134-D2S358-D2S145 on chromosome 2p, indicating genetic heterogeneity. A genome wide screen was performed to identify loci linked to MMD. In two non-chromosome 2-linked families, a 23 cM region on chromosome 10 segregated with MMD.",

keywords = "Chromosome 10, Chromosome 2p12-14, Genetic heterogeneity, Genome wide screen, Linkage-analysis, Miyoshi-type distal muscular dystrophy",

author = "Linssen, {W. H.J.P.} and {De Visser}, M. and Notermans, {N. C.} and Vreyling, {J. P.} and {Van Doorn}, {P. A.} and Wokke, {J. H.J.} and F. Baas and Bolhuis, {P. A.}",

year = "1998",

month = jun,

doi = "10.1016/S0960-8966(98)00020-0",

language = "English",

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journal = "Neuromuscular Disorders",

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T1 - Genetic heterogeneity in miyoshi-type distal muscular dystrophy

AU - Linssen, W. H.J.P.

AU - De Visser, M.

AU - Notermans, N. C.

AU - Vreyling, J. P.

AU - Van Doorn, P. A.

AU - Wokke, J. H.J.

AU - Baas, F.

AU - Bolhuis, P. A.

PY - 1998/6

Y1 - 1998/6

N2 - Miyoshi-type distal muscular dystrophy (MMD) is an autosomal recessively inherited progressive disorder. The putative locus of MMD is linked to the limb-girdle muscular dystrophy 2B locus on chromosome 2p12-14. In this study three of four MMD pedigrees show nonlinkage to the region spanned by D2S134-D2S358-D2S145 on chromosome 2p, indicating genetic heterogeneity. A genome wide screen was performed to identify loci linked to MMD. In two non-chromosome 2-linked families, a 23 cM region on chromosome 10 segregated with MMD.

AB - Miyoshi-type distal muscular dystrophy (MMD) is an autosomal recessively inherited progressive disorder. The putative locus of MMD is linked to the limb-girdle muscular dystrophy 2B locus on chromosome 2p12-14. In this study three of four MMD pedigrees show nonlinkage to the region spanned by D2S134-D2S358-D2S145 on chromosome 2p, indicating genetic heterogeneity. A genome wide screen was performed to identify loci linked to MMD. In two non-chromosome 2-linked families, a 23 cM region on chromosome 10 segregated with MMD.

KW - Chromosome 10

KW - Chromosome 2p12-14

KW - Genetic heterogeneity

KW - Genome wide screen

KW - Linkage-analysis

KW - Miyoshi-type distal muscular dystrophy

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DO - 10.1016/S0960-8966(98)00020-0

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JF - Neuromuscular Disorders

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ER -

Genetic heterogeneity in miyoshi-type distal muscular dystrophy

Abstract

Keywords

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