rippling muscle disease 1

Term ID

DOID:0070308

Synonyms

Definition

A muscle tissue disease characterized by electrically silent contractions of the skeletal muscles in response to mechanical stimuli. It has_material_basis_in mutation in the gene localized to 1q41 at the distal end of the long arm of chromosome 1, has_symptom characteristic lateral rolling movement of muscle, has_symptom muscle cramps, has_symptom muscle pain, has_symptom muscle stiffness during or following exercise. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3697883/

References

• MESH:C535686
• OMIM:600332

Ontology

Human Disease   ( DOID:0070308 )