X-linked myotubular myopathy: a linkage study.
Two families with the congenital X-linked infantile form of myotubular myopathy have been investigated by linkage analysis using markers from the X-chromosome. Linkage was found at the locus Xq28 (with DXS52). The analysis gave a peak lod score of 2.41 at the recombination fraction zero. Free recombinations (theta = 0.50) were seen using the markers DXS84, DXS14 and DXS146 from the p arm of the X-chromosome. Since the disorder is very rare, it is important to add cumulative linkage data from the few families that do exist.
Darnfors
C
C
Department of Clinical Genetics, University of Göteborg, Sweden.
Larsson
H E
HE
Oldfors
A
A
Kyllerman
M
M
Gustavson
K H
KH
Bjursell
G
G
Wahlström
J
J
D005260:Female; D005387:Finland; D005808:Genes, Recessive; D008040:Genetic Linkage / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D009123:Muscle Hypotonia / Q000235:genetics*; D010375:Pedigree; D012150:Polymorphism, Restriction Fragment Length; D013548:Sweden; D014960:X Chromosome / Q000648:ultrastructure*