On this page, you will find information about a genetic change that was identified in a UDN participant. We are trying to find others with the same or similar condition.

Sharing information on this website is not a requirement of UDN participation. Only descriptions about participants who give explicit consent will appear here.

Date of Report

May 08, 2018

Full Name

muscle, skeletal, receptor tyrosine kinase

Chromosome 9 (9q31.3)


The MUSK gene codes for a muscle-specific kinase required for neuromuscular junction formation (DeChiara et al., 1996).

Database Links

GeneCards: GC09P110668

Genetics Home Reference: MUSK

NCBI Gene: 18198

OMIM: 601296

UniProtKB/Swiss-Prot: O15146

Clinical Significance

A change in this gene was identified in a UDN participant. Research is underway to see if this change is causing symptoms in this participant.

Inheritance Pattern Autosomal dominant (maternally inherited)
Position Chr9: 113449510
Transcript NM_005592.3
DNA Change c.302G>A
Protein Change p.Gly107Glu
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