Features include always present findings: Achilles tendon contracture, Elevated creatine kinase (muscle enzyme) (elevated circulating creatine kinase concentration), Facial palsy, and Flexion contracture and others; and common findings: Difficulty swallowing (dysphagia), Global developmental delay, and Atypical behavior.

KY encodes kyphoscoliosis peptidase (661 aa). Probable cytoskeleton-associated protease required for normal muscle growth. Involved in function, maturation and stabilization of the neuromuscular junction. Highest expression in Skin Not Sun Exposed Suprapubic (8.7 TPM) and Skin Sun Exposed Lower leg (6.8 TPM).

Myofibrillar myopathy 7 is associated with mutations in the KY gene on chromosome 3.

The KY protein participates in Estrogen-responsive CXXC5 gene expresion, Transcription of POU5F1 (OCT4), and Aquaporins passively transport water out of cells pathways.

KY is classified as a druggable target (Protease category) with score 0.0.

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

Biomarker and diagnostic research for myofibrillar myopathy 7 has been reported in the published literature.

Phenotype severity distribution: 30 always present features, 3 common features.

No clinical trials have been registered for myofibrillar myopathy 7.

13 publications have been identified in PubMed for myofibrillar myopathy 7. Research spans Epidemiology / Natural History (38%), Review / Meta-Analysis (23%), and Case Report / Case Series (23%).