MUSK

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.

A change in this gene was identified in a male, age 10, with arthrogryposis multiplex congenita, low muscle tone (muscle hypotonia), and low bone density (osteopenia) (read full description).

Date of Report

May 08, 2018

Full Name

muscle, skeletal, receptor tyrosine kinase

Location

Chromosome 9 (9q31.3)

Function

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

Database Links

GeneCards: 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.

Gene MUSK

Inheritance Pattern Autosomal dominant

Position (hg19) chr9:g.113449510G>A

Transcript NM_005592.3

DNA Change c.320G>A

Protein Change p.Gly107Glu

Contact Us

Interested in learning more about this gene or sharing what you know? Contact us!