Gene: [04q35/FSHMD1A] facioscapulohumeral muscular dystrophy 1A, Landouzy-Dejerine; [FSHD FMD ]

HIS

Preliminary data (Padberg-1984) on the slight linkage of this marker with the cluster IGH (FAM:IGH/14q3233) were disproved in later studies using an anonymous DNA marker of chromosome 14 (GEM:14q323/D14S1; Padberg-1988). Data (Lunt-1989) about the linkage of FMD with an anonymous marker D18S3 located in 18p11.3 were also not confirmed."

CAG

On another form of FSHMD see GEM:00.0/FSHMD1B.

REF

LIN "Bodrug SE &: J Med Genet, 27, 426-432, 1990
LIN "Bodrug SE &: Genomics, 4, 101-104, 1989
LOC,LIN,CYG "Cacurri S &: Hum Genet, 94, 367-374, 1994
LIN "Gilbert JR &: AJHG, 51, N2, 424-427, 1992
MUT "Griggs RC &: Neurology, 43, 2369-2372, 1993
ASS "Hewitt JE &: Hum Mol Genet, 3, 1287-1295, 1994
HIS,PHE,PAT "Landouzy L, Dejerine J: Rev Med Franc, 5, 81, 1885
LOC,LIN,CYG "Lunt PW &: CCG, 58, 1887, 1991
LIN,COM "Lunt PW &: CCG, 51, (HGM10), 1036, 1989
LOC,LIN,MAF,MAG "Mills KA &: AJHG, 51, N2, 432-439, 1992
LOC,LIN,CYG "Mills KA &: CCG, 58, 1888, 1991
COM,LIN "Padberg GW &: Muscle Nerve, 11, 833-835, 1988
COM,LIN "Padberg GW &: J Neurol Sci, 65, 261-268, 1984
LOC,LIN,MAP "Sarfarazi M &: AJHG, 51, N2, 396-405, 1992
LIN "Sarfarazi M &: CCG, 51, (HGM10), 1073, 1989a
LIN "Sarfarazi M &: J Med Genet, 26, 481-484, 1989b
LOC,LIN,CYG "Siddique T &: J Med Genet, 26, 487-489, 1989
ABR,PAT "Tawil R &: Hum Mut, 2, 492-494, 1993a
EXP,PAT "Tawil R &: Neurology, 43, 345-348, 1993b
LOC,LIN,CYG "Upadhyaya M &: Hum Mol Genet, 2, 981-987, 1993
LOC,LIN,MAP "Upadhyaya M &: AJHG, 51, N2, 404-410, 1992
LOC,LIN,CYG "Weiffenbach B &: Nature Genet, 4, 165-169, 1993
LIN "Weiffenbach B &: AJHG, 51, N2, 416-423, 1992
LOC,LIN,CYG "Wijmenga C &: Genomics, 19, 21-26, 1994
LOC,LIN,CYG "Wijmenga C &: Hum Mol Genet, 2, 1667-1672, 1993
LOC,LIN,CYG "Wijmenga C &: AJHG, 51, N2, 411-415, 1992a
LOC,LIN,CYG "Wijmenga C &: Nature Genet, 2, 26-30, 1992b
LOC,LIN,CYG "Wijmenga C &: Genomics, 9, 570-575, 1991
LIN "Wijmenga C &: Lancet, 336, 651-653, 1990
LOC,LIN,MAF,MAG "Winokur ST &: AJHG, 53, 874-880, 1993
LOC,LIN,CYG "Wright TJ &: Hum Mol Genet, 2, 1673-1678, 1993
LOC,LIN,CYG "Yang Q &: JBC, 268, 17650, 1993
MUT "Zatz M &: AJHG, 56, 99-105, 1995

KEY

neu, myo, devd

CLA

unknown, basic

LOC

04 q35

MIM

MIM: 158900

SYN

FSHD FMD

Ссылки: