Gene: [07q35/CLCN1] chloride channel 1, skeletal muscle; Thomsen's disease (myotonia congenita; autosomal dominant; MIM:160800); Becker's disease (generalized myotonia; autosomal recessive; MIM:255700);


FAG

[1] The following genes coding for chloride channels have been found: GEM:03q2/CLCN2; GEM:04q3/CLCN3; GEM:0Xp223/CLCN4; GEM:0Xp1122/CLCN5; GEM:01p36/CLCN6; GEM:16p13/CLCN7;
[2] About nucleotide-sensitive chloride channels see: GEM:11q1/CLNS1A; GEM:06^/CLNS1B.
[3] About kidney chloride channels see: GEM:01p36/CLCNKA; GEM:01p36/CLCNKB.
[4] About calcium-activated chloride channels see: GEM:00.0/CLCA1; GEM:01p/CLCA2."

REF

LOC,LIN,POL "Abdalla JA &: AJHG, 51, 579-584, 1992
MOL,PAT "George AL &: Nature Genet, 3, 305-310, 1993
MUT "Koch MC &: AJHG, 55, (Suppl), A226, 1994
LOC,LIN,POL "Koch MC &: Science, 257, 797-800, 1992
LIN,LOC "Koty PP &: AJHG, 55, (Suppl), A227, 1994
MOL,PAT "Lehmann-Horn F &: Hum Mol Genet, 4, 1397-1402, 1995
CLO,SEQ,GEN,MUT "Lorenz C &: Hum Mol Genet, 3, 941-946, 1994
MUT "Mailander V &: AJHG, 58, N2, 317-324, 1996
MUT "Meyer-Kleine C &: AJHG, 57, 1325-1334, 1995
MUT "Meyer-Kleine C &: Hum Mol Genet, 3, 1015-1016, 1994
MUT "Pusch M &: Neuron, 15, 1455-1463, 1995
MAM,CLO,PEP,EXP "Steinmeyer K &: Nature, 354, 301-304, 1991a
PAT,MOD,MOU,EAG "Steinmeyer K &: Nature, 354, 304-307, 1991b

SWI

SWISSPROT: P35523

KEY

ion, mem, neu, myo

CLA

coding, basic

LOC

07 q35

MIM

MIM: 118425

鸯铗痂蝈 蜞赕:

  • 愉腓礤龛 桧蝈疴嚯 QT 怵铈溴眄铄 (LQTS)
  • 缅 CIC-7 (徨腩 蹼铕眍泐 赅磬豚)
  • HUGEN-赅磬 蹼铕睇