Linkage of X-linked myopathy with excessive autophagy (XMEA) to Xq28.
X-linked myopathy with excessive autophagy (XMEA, MIM 310440) is a rare inherited mild myopathy. We have used 32 polymorphic markers spanning the entire X chromosome to exclude most of the chromosome except the Xq28 region in a large XMEA family. Using three additional families for linkage analysis, we have obtained a significant two-point lod score with marker DXS1183 (Z = 2.69 at theta = 0). Multipoint linkage analysis confirmed the assignment of the disease locus with a maximal lod score of 2.74 obtained at recombination fraction zero. Linkage of XMEA to the Xq28 region is thus firmly established. In addition, we have ruled out the Emery-Dreifuss muscular dystrophy to be allelic with XMEA by direct sequencing of the emerin gene in three of our families.
Villard
L
L
INSERM U491, Université de la Méditerrannée, Faculté de Médecine La Timone, Marseille, France.
des Portes
V
V
Levy
N
N
Louboutin
J P
JP
Recan
D
D
Coquet
M
M
Chabrol
B
B
Figarella-Branger
D
D
Chelly
J
J
Pellissier
J F
JF
Fontes
M
M
D001706:Biopsy; D002874:Chromosome Mapping; D004247:DNA / Q000737:chemistry / Q000235:genetics; D005192:Family Health; D005260:Female; D008040:Genetic Linkage; D006239:Haplotypes; D006801:Humans; D008126:Lod Score; D008297:Male; D008565:Membrane Proteins / Q000235:genetics; D018895:Microsatellite Repeats; D018482:Muscle, Skeletal / Q000473:pathology; D009135:Muscular Diseases / Q000235:genetics* / Q000473:pathology; D009154:Mutation; D009687:Nuclear Proteins; D010375:Pedigree; D017422:Sequence Analysis, DNA; D013946:Thymopoietins / Q000235:genetics; D014960:X Chromosome / Q000235:genetics*
D008565:Membrane Proteins; D009687:Nuclear Proteins; D013946:Thymopoietins; C092710:emerin; D004247:DNA