The gene for X-linked myotubular myopathy is located in an 8 Mb region at the border of Xq27.3 and Xq28

E. A. Janssen; G. W. Hensels; B. A. van Oost; B. C. Hamel; S. Kemp; F. Baas; J. W. Weber; P. G. Barth; P. A. Bolhuis

doi:https://doi.org/10.1016/0960-8966(94)90084-1

The gene for X-linked myotubular myopathy is located in an 8 Mb region at the border of Xq27.3 and Xq28

E. A. Janssen, G. W. Hensels, B. A. van Oost, B. C. Hamel, S. Kemp, F. Baas, J. W. Weber, P. G. Barth, P. A. Bolhuis

Other Departments

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

14 Citations (Scopus)

Abstract

X-linked recessive myotubular myopathy (XLMTM) is a rare and severe neonatal neuromuscular disease characterized by muscle weakness, hypotonia, and respiratory problems. Here we report an extensive linkage analysis in two families with XLMTM. Using 18 markers in the Xq27-Xqter region we found a maximum two-point lod score of Z = 4.00 at theta = 0.00 for the marker II-10 (DXS466). Three recombinations were detected between markers and the disease locus. At the distal side of Xq27.3 a recombination was present in between RNI (DXS369) and VK23b (DXS297), another in between VK23b (DXS297) and II-10 (DXS466), and at the proximal side of Xq28 a recombination in between U6.2 (DXS304) and Cpx67 (DXS134). Combining the results of both families we conclude that XLMTM is located in the 8 Mb(11 cM) region between VK23b (DXS297) and Cpx67 (DXS134)

Original language	English
Pages (from-to)	455-461
Journal	Neuromuscular disorders
Volume	4
Issue number	5-6
DOIs	https://doi.org/10.1016/0960-8966(94)90084-1
Publication status	Published - 1994

Access to Document

https://doi.org/10.1016/0960-8966(94)90084-1

Cite this

@article{62970904ac144ecca98641f512c1fea8,

title = "The gene for X-linked myotubular myopathy is located in an 8 Mb region at the border of Xq27.3 and Xq28",

abstract = "X-linked recessive myotubular myopathy (XLMTM) is a rare and severe neonatal neuromuscular disease characterized by muscle weakness, hypotonia, and respiratory problems. Here we report an extensive linkage analysis in two families with XLMTM. Using 18 markers in the Xq27-Xqter region we found a maximum two-point lod score of Z = 4.00 at theta = 0.00 for the marker II-10 (DXS466). Three recombinations were detected between markers and the disease locus. At the distal side of Xq27.3 a recombination was present in between RNI (DXS369) and VK23b (DXS297), another in between VK23b (DXS297) and II-10 (DXS466), and at the proximal side of Xq28 a recombination in between U6.2 (DXS304) and Cpx67 (DXS134). Combining the results of both families we conclude that XLMTM is located in the 8 Mb(11 cM) region between VK23b (DXS297) and Cpx67 (DXS134)",

author = "Janssen, {E. A.} and Hensels, {G. W.} and {van Oost}, {B. A.} and Hamel, {B. C.} and S. Kemp and F. Baas and Weber, {J. W.} and Barth, {P. G.} and Bolhuis, {P. A.}",

year = "1994",

doi = "https://doi.org/10.1016/0960-8966(94)90084-1",

language = "English",

volume = "4",

pages = "455--461",

journal = "Neuromuscular disorders",

issn = "0960-8966",

publisher = "Elsevier Limited",

number = "5-6",

}

TY - JOUR

T1 - The gene for X-linked myotubular myopathy is located in an 8 Mb region at the border of Xq27.3 and Xq28

AU - Janssen, E. A.

AU - Hensels, G. W.

AU - van Oost, B. A.

AU - Hamel, B. C.

AU - Kemp, S.

AU - Baas, F.

AU - Weber, J. W.

AU - Barth, P. G.

AU - Bolhuis, P. A.

PY - 1994

Y1 - 1994

N2 - X-linked recessive myotubular myopathy (XLMTM) is a rare and severe neonatal neuromuscular disease characterized by muscle weakness, hypotonia, and respiratory problems. Here we report an extensive linkage analysis in two families with XLMTM. Using 18 markers in the Xq27-Xqter region we found a maximum two-point lod score of Z = 4.00 at theta = 0.00 for the marker II-10 (DXS466). Three recombinations were detected between markers and the disease locus. At the distal side of Xq27.3 a recombination was present in between RNI (DXS369) and VK23b (DXS297), another in between VK23b (DXS297) and II-10 (DXS466), and at the proximal side of Xq28 a recombination in between U6.2 (DXS304) and Cpx67 (DXS134). Combining the results of both families we conclude that XLMTM is located in the 8 Mb(11 cM) region between VK23b (DXS297) and Cpx67 (DXS134)

AB - X-linked recessive myotubular myopathy (XLMTM) is a rare and severe neonatal neuromuscular disease characterized by muscle weakness, hypotonia, and respiratory problems. Here we report an extensive linkage analysis in two families with XLMTM. Using 18 markers in the Xq27-Xqter region we found a maximum two-point lod score of Z = 4.00 at theta = 0.00 for the marker II-10 (DXS466). Three recombinations were detected between markers and the disease locus. At the distal side of Xq27.3 a recombination was present in between RNI (DXS369) and VK23b (DXS297), another in between VK23b (DXS297) and II-10 (DXS466), and at the proximal side of Xq28 a recombination in between U6.2 (DXS304) and Cpx67 (DXS134). Combining the results of both families we conclude that XLMTM is located in the 8 Mb(11 cM) region between VK23b (DXS297) and Cpx67 (DXS134)

U2 - https://doi.org/10.1016/0960-8966(94)90084-1

DO - https://doi.org/10.1016/0960-8966(94)90084-1

M3 - Article

C2 - 7881289

SN - 0960-8966

VL - 4

SP - 455

EP - 461

JO - Neuromuscular disorders

JF - Neuromuscular disorders

IS - 5-6

ER -