non-dystrophic myopathy
A group of rare skeletal muscle ion-channel disorders caused by genetic mutations in the sodium and chloride channel genes. It is characterized by altered membrane excitability resulting in skeletal muscle stiffness. This group of myotonias is distinct from myotonic dystrophy because of the absence of systemic features or progressive weakness. [ ]
Term info
non-dystrophic myopathy
- non dystrophic myotonia
- non-dystrophic myotonia
disease_grouping, obsoletion_candidate, ordo_group_of_disorders
2022-09-01
Reason: grouping class. Term to consider: none
http://identifiers.org/snomedct/424795008, http://linkedlifedata.com/resource/umls/id/C1828221, http://purl.obolibrary.org/obo/NCIT_C122787, http://purl.obolibrary.org/obo/Orphanet_206656
MONDO:0016110
https://github.com/monarch-initiative/mondo/issues/5045