Gene: [01q/LGMD1B] limb girdle muscular dystrophy 1B (autosomal dominant);
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COM |
Van der Kooi et al. (Van der Kooi-1997) demonstrated linkage in their 3 families to 1q11-q21, with a combined maximum 2-point lod score greater than 12 at theta = 0.0. The authors mentioned connexin 40 (GEM:01q211/GJA5) as a potential candidate gene." |
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REF |
FOG,HET,LIN "Speer MC &: AJHG, 53, A1082, 1993 PAT,LIN,LOC "van der Kooi AJ &: AJHG, 60, 891-895, 1997 |
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KEY |
myo |
|
CLA |
unknown, basic |
|
LOC |
01 q11-21 |
|
MIM |
MIM: 159001 |
