DOK7

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DOK7

A gene on chromosome 4p16.3 that encodes a putative muscle-intrinsic autophosphorylating activator of MUSK which plays an essential role in neuromuscular synaptogenesis, triggering acetylcholine receptor (AchR) clustering in myotubes. It is expressed in skeletal muscle and the heart.

Molecular pathology
Defects in DOK7 cause familial limb-girdle myasthenia.