Features include always present findings: Centrally nucleated skeletal muscle fibers, Sideways curvature of the spine (scoliosis), Type 1 muscle fiber predominance, and Proximal muscle weakness and others; and very common findings: Skeletal muscle atrophy. 20 total HPO annotations.

MAP3K20 encodes mitogen-activated protein kinase kinase kinase 20 (800 aa). Stress-activated component of a protein kinase signal transduction cascade that promotes programmed cell death in response to various stress, such as ribosomal stress, osmotic shock and ionizing radiation. Highest expression in Esophagus Muscularis (113.8 TPM) and Muscle Skeletal (111.2 TPM).

Myopathy, centronuclear, 6, with fiber-type disproportion is strongly associated with mutations in the MAP3K20 gene on chromosome 2.

MAP3K20 is classified as a druggable target (Druggable Genome, Enzyme, Kinase, and Serine Threonine Kinase categories) with score 2.2.

Genetic testing for MAP3K20 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for myopathy, centronuclear, 6, with fiber-type disproportion has been reported in the published literature.

Phenotype severity distribution: 5 always present features, 1 very common feature, 8 common features.

No clinical trials have been registered for myopathy, centronuclear, 6, with fiber-type disproportion.

32 publications have been identified in PubMed for myopathy, centronuclear, 6, with fiber-type disproportion. Research spans Basic Science / Preclinical (41%), Case Report / Case Series (22%), and Epidemiology / Natural History (13%).