Gene: [01q/LGMD1B] limb girdle muscular dystrophy 1B (autosomal dominant);

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."

REF

FOG,HET,LIN "Speer MC &: AJHG, 53, A1082, 1993
PAT,LIN,LOC "van der Kooi AJ &: AJHG, 60, 891-895, 1997

KEY

myo

CLA

unknown, basic

LOC

01 q11-21

MIM

MIM: 159001

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