Gene: [19q133/DMPK] myotonic distrophy protein kinase; dystrophia myotonia;

REL

 GEM:19q133/DMAHP; GEM:19q133/DMWD.

MAP

 Loci: GEM:19q131/RYR1; GEM:19q132/APOC1; GEM:19q132/APOC2; GEM:19q133/CKM; GEM:19q132/CYP2A6; GEM:19q134/PRKCG; GEM:19q132/BCL3.
[1] See GEM:19q131/RYR1.
[2] See GEM:19q134/PRKCG."

CAG

 About myotonic dystrophy type 2 see GEM:03q2/DM2.

REF

 MUT "Brook JD &: Cell, 68, 799-808, 1992
LIN,MAP "Brook JD &: Hum Genet, 87, 65-72, 1991
LOC,LIN "Brunner HG &: Hum Genet, 81, 308-310, 1989
SEQ,MUT "Buxton J &: Nature, 355, 547-548, 1992
CLO,SEQ "Fu YH &: Science, 255, 1256-1258, 1992
MUT "Gennarelli M &: BBRC, 216, 489-494, 1995
LIN,MAP "Harley HG &: CCG, 58, (HGM11), 2019, 1991a
LIN,MAP "Harley HG &: Hum Genet, 87, 73-80, 1991b
LOC,LIN,MAP "Harley HG &: CCG, 51, (HGM10), 1011, 1989
CLO,SEQ "Jansen G &: Genomics, 13, 509-517, 1992a
CLO,SEQ "Jansen G &: Nature Genet, 1, 261-266, 1992b
LOC,LIN,MOL,POL "Johnson K &: AJHG, 46, N6, 1073-1081, 1990
LOC,LIN,MAP "MacKenzie AE &: CCG, 51, (HGM10), 1036-1037, 1989
CLO,SEQ,GEN "Mahadevan MS &: Hum Mol Genet, 2, 299-304, 1993
CLO,SEQ,GEN "Mahadevan MS &: Science, 255, 1253-1255, 1992
LIN,MAG,PND "Milunsky JM &: Am J Med Sci, 301, N4, 231-237, 1991
LIN,MAG,PND "Mulley JC &: J Med Genet, 28, 448-452, 1991
LOC,LIN "Pericak-Vance MA &: Neurology, 36, 1418-1423, 1986
LOC,LIN,MAP "Roses AD &: CCG, 51, (HGM10), 1069, 1989
CLO,SEQ,STR "Shaw DJ &: Genomics, 18, 673-679, 1993
LOC,LIN,MAP "Shaw DJ &: Hum Genet, 83, N1, 71-74, 1989
LOC,LIN,MAP "Shaw DJ &: Hum Genet, 74, 267-269, 1986
LOC,LIN,MOL,POL "Takemoto Y &: Genomics, 6, N1, 195-196, 1990

KEY

 neu, myo, tri

CLA

 coding, basic

LOC

 19 q13.3

MIM

 MIM: 160900

EZN

 ENZYME: 2.7.1.?

Ссылки: