Gene: [14q1/MYH7] myosin, heavy polypeptide 7, cardiac muscle, beta; cardiomyopathy, hypertrophic 1 (MIM:192600); [MYHCB MYH6B ]
MAP | Loci:
GEM:14q1/MYH6. [1] See GEM:14q1/MYH6." |
CAG | Six different forms of hypertrophic cardiomyopathy are described: CMH1 is due to mutation in a cardiac muscle heavy myosin; CMH2 is due to mutation in a cardiac troponin (GEM:01q32/TNNT2); CMH3 is due to mutation in a skeletal muscle tropomyosin (GEM:15q221/TPM1); CMH4 is due to mutation in a cardiac myosin-binding protein (GEM:11p112/MYBPC3); CMH5 - see GEM:00.0/CMH5; CMH6 with Wolff-Parkinson-White syndrome - see GEM:07q3/CMH6." |
REF | MUT,PAT "Anan R &: J Clin Invest, 93, 280-285, 1994 MUT,PAT "Arai S &: Am J Med Genet, 58, 267-276, 1995 MUT,PAT "Cuda G &: J Clin Invest, 91, N6, 2861-2865, 1993 MUT,PAT "Dausse E &: J Clin Invest, 92, 2807-2813, 1993 PRO,GEN "Diederich KW &: Hum Genet, 81, N3, 214-220, 1989 MUT,PAT "Fananapazir L &: PNAS, 90, 3993-3997, 1993 MUT,PAT "Harada H &: BBRC, 194, 791-798, 1993 LOC,LIN,PAT "Jarcho &: New Engl J Med, 321, 1372-1378, 1989 MUT,PAT "Ko Y-L &: Hum Genet, 97, 585-590, 1996 MUT,PAT "Lankford EB &: J Clin Invest, 95, N3, 1409-1414, 1995 MUT,PAT "Marian AJ &: J Clin Invest, 90, 2156-2165, 1992 LOC,PRO,FAG "Matsuoka R &: Am J Med Genet, 32, N2, 279-284, 1989 MUT,PAT "Nishi H &: BBRC, 200, 549-556, 1994 MUT,PAT "Perryman MB &: J Clin Invest, 90, 271-277, 1992 LOC,PRO,FAG "Qin H &: CCG, 54, 74-76, 1990 MUT,PAT "Rayment I &: PNAS, 92, 3864-3868, 1995 MUT,PAT "Watkins H &: J Clin Invest, 90, 1666-1671, 1992a MUT,PAT "Watkins H &: New Engl J Med, 326, 1108-1114, 1992b |
SWI | SWISSPROT: P12883 |
KEY | myo, card |
CLA | coding, basic |
LOC | 14 q11.2-12 |
MIM | MIM: 160760 |
SYN | MYHCB MYH6B |
