Features include always present findings: Elevated creatine kinase (muscle enzyme) (elevated circulating creatine kinase concentration) and Proximal lower limb muscle weakness; and very common findings: Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Sarcoplasmic bodies, and Weakness of the intrinsic hand muscles and others. 12 total HPO annotations.

MB encodes myoglobin (154 aa). Monomeric heme protein which primary function is to store oxygen and facilitate its diffusion within muscle tissues. Highest expression in Muscle Skeletal (8,461 TPM) and Heart Left Ventricle (4,771 TPM).

Myopathy, sarcoplasmic body is associated with mutations in the MB gene on chromosome 22.

The MB protein participates in pS37,T41,S45-CTNNB1 S33Y and pS37,T41,S45-CTNNB1 S33F pathways.

MB is classified as a druggable target with score 0.0.

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

Biomarker and diagnostic research for myopathy, sarcoplasmic body has been reported in the published literature.

Phenotype severity distribution: 2 always present features, 5 very common features, 4 common features.

No clinical trials have been registered for myopathy, sarcoplasmic body.

16 publications have been identified in PubMed for myopathy, sarcoplasmic body. Research spans Basic Science / Preclinical (44%), Review / Meta-Analysis (19%), and Other (6%).