Key result
Anoctamin 5 (ANO5) mutations cause a spectrum of rare hereditary skeletal muscle and bone disorders for which symptomatic and supportive strategies remain the mainstay of treatment.
Design
Narrative review
Authors
Loading...
Recognition of ANO5 phenotypes may aid diagnosis; leaves open genotype-phenotype correlations and therapies.
This narrative review summarizes the genetics, clinical phenotypes, and pathology of ANO5 muscle disorders, highlighting the need for supportive care and the potential of animal models for therapeutic discovery.
Soontrapa et al. (2022) conducted a review in Anoctamin 5 (ANO5) Muscle Disorders. Anoctamin 5 (ANO5) mutations cause a spectrum of rare hereditary skeletal muscle and bone disorders for which symptomatic and supportive strategies remain the mainstay of treatment.
Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context: