Gene: [0Xq2/MTM1] myotubularin; myotubular myopathy 1;

REF

ABR,LOC "Dahl N &: AJHG, 56, 1108-1115, 1995
LIN,LOC "Dahl N &: J Med Genet, 31, 922-924, 1994
LIN,LOC "Darnfors C &: Clin Genet, 37, 335-340, 1990
LIN,LOC "Darnfors C &: CCG, 51, 983, 1989
MUT,HET "Guiraud-Chaumeil C &: AJHG, 60, 1542-1544, 1997
ABR,LOC "Hu L-J &: Hum Mol Genet, 5, 139-143, 1996
LOC "Janssen EAM &: Neuromuscul Disord, 4, 455-461, 1994
PAT "Joseph M &: Am J Med Genet, 59, 168-173, 1995
CLO,SEQ "Kioschis P &: Genomics, 33, 365-373, 1996
CLO,SEQ,STR,FUN "Laporte J &: Nature Genet, 13, 175-182, 1996
POL,LOC "Lehesjoki AE &: J Med Genet, 27, 288-291, 1990
LOC "Schlessinger D &: CCG, 64, 147-194, 1993
LIN,LOC "Starr J &: J Med Genet, 27, 281-283, 1990
LIN,LOC "Thomas NST &: J Med Genet, 27, 284-287, 1990
LIN,LOC "Thomas NST &: CCG, 46, 704, 1987
LOC "Willard HF &: CCG, 67, 295-358, 1994

KEY

myo

CLA

coding, basic

LOC

0X q27.3-28

MIM

MIM: 310400