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|
*RECORD*
*FIELD* NO
100500
*FIELD* TI
*100500 title
;;title1;;
title2;;
title3
*FIELD* MN
Mini MIM text
*FIELD* CN
Mini MIM - cn
*FIELD* CD
Mini MIM - cd
*FIELD* ED
Mini MIM - ed
*FIELD* TX
DESCRIPTION1
*FIELD* TX
DESCRIPTION2
*FIELD* AV
.0001
ALCOHOL INTOLERANCE, ACUTE
ACETALDEHYDE DEHYDROGENASE 2, ALLELE 2, INCLUDED; ALDH2*2, INCLUDED XXX!
ACETALDEHYDE DEHYDROGENASE 2, ALLELE 2, INCLUDED; ALDH2*2, INCLUDED XXX!
ACETALDEHYDE DEHYDROGENASE 2, ALLELE 2, INCLUDED; ALDH2*2, INCLUDED XXX!
ALDH2, GLU487LYS
AV1-text
.0002
MYASTHENIC SYNDROME, SLOW-CHANNEL CONGENITAL
ACETALDEHYDE DEHYDROGENASE 2, ALLELE 2, INCLUDED; ALDH2*2, INCLUDED XXX!
CHRNA1, VAL156MET
AV2-text
.0003
MYASTHENIC SYNDROME, SLOW-CHANNEL CONGENITAL
CHRNE, ARG147LEU
AV2-text a
AV2-text b
.0004
MYASTHENIC SYNDROME, SLOW-CHANNEL CONGENITAL
CHRNE, 1-BP DEL, 911T
Sieb et al. (2000) found that a brother and sister with congenital
myasthenic syndrome (601462) were compound heterozygotes for a deletion
of 911T and a splicing mutation (IVS4+1G-A; 100725.0007).
.0005
MYASTHENIC SYNDROME, SLOW-CHANNEL CONGENITAL
CHRNE, IVS4DS, G-A, +1
See 100725.0006 and Sieb et al. (2000).
.0006
MYASTHENIC SYNDROME, SLOW-CHANNEL CONGENITAL
CHRNE, 1-BP DEL, 1030C
AV6-text
*FIELD* SA
sa
*FIELD* RF
1. Author11, A. A.; Author12, A. A.: Title 1. Am. J. Med. Genet1. 11: 11-111, 1981.
2. Author21, A. A.; Author22, A. A.: Title 2. Am. J. Med. Genet2. 12: 22-222, 1982.
3. Author31, A. A.; Author32, A. A.: Title 3. Am. J. Med. Genet3. 13: 33-333, 1983.
4. other reference undef format
*FIELD* CS
clinical symptoms
*FIELD* CN
cn1
*FIELD* CD
cd1
*FIELD* ED
ed1
*FIELD* CN
cn2
cn3
*FIELD* ED
ed2
ed3
*FIELD* CD
cd2
cd3
*RECORD*
*FIELD* NO
100501
*FIELD* TI
#100501 second entry
;;title1;;
title2;;
title3
*FIELD* MN
Mini MIM text
*FIELD* CN
Mini MIM - cn
*FIELD* CD
Mini MIM - cd
*FIELD* ED
Mini MIM - ed
*FIELD* TX
DESCRIPTION1
*FIELD* TX
DESCRIPTION2
*FIELD* AV
.0001
ALCOHOL INTOLERANCE, ACUTE
ACETALDEHYDE DEHYDROGENASE 2, ALLELE 2, INCLUDED; ALDH2*2, INCLUDED XXX!
ACETALDEHYDE DEHYDROGENASE 2, ALLELE 2, INCLUDED; ALDH2*2, INCLUDED XXX!
ACETALDEHYDE DEHYDROGENASE 2, ALLELE 2, INCLUDED; ALDH2*2, INCLUDED XXX!
ALDH2, GLU487LYS
AV1-text
.0002
MYASTHENIC SYNDROME, SLOW-CHANNEL CONGENITAL
ACETALDEHYDE DEHYDROGENASE 2, ALLELE 2, INCLUDED; ALDH2*2, INCLUDED XXX!
CHRNA1, VAL156MET
AV2-text
.0003
MYASTHENIC SYNDROME, SLOW-CHANNEL CONGENITAL
CHRNE, ARG147LEU
AV2-text a
AV2-text b
.0004
MYASTHENIC SYNDROME, SLOW-CHANNEL CONGENITAL
CHRNE, 1-BP DEL, 911T
Sieb et al. (2000) found that a brother and sister with congenital
myasthenic syndrome (601462) were compound heterozygotes for a deletion
of 911T and a splicing mutation (IVS4+1G-A; 100725.0007).
.0005
MYASTHENIC SYNDROME, SLOW-CHANNEL CONGENITAL
CHRNE, IVS4DS, G-A, +1
See 100725.0006 and Sieb et al. (2000).
.0006
MYASTHENIC SYNDROME, SLOW-CHANNEL CONGENITAL
CHRNE, 1-BP DEL, 1030C
AV6-text
*FIELD* SA
sa
*FIELD* RF
1. Author11, A. A.; Author12, A. A.: Title 1. Am. J. Med. Genet1. 11: 11-111, 1981.
2. Author21, A. A.; Author22, A. A.: Title 2. Am. J. Med. Genet2. 12: 22-222, 1982.
3. Author31, A. A.; Author32, A. A.: Title 3. Am. J. Med. Genet3. 13: 33-333, 1983.
4. other reference undef format
*FIELD* CS
clinical symptoms
*FIELD* CN
cn1
*FIELD* CD
cd1
*FIELD* ED
ed1
*FIELD* CN
cn2
cn3
*FIELD* ED
ed2
ed3
*FIELD* CD
cd2
cd3
|
