{"id":"c53197e8-854d-564d-b2d5-00aa7340a159","stable_key":"4df6a932-097e-563a-91fe-5dceec471ffd:chloride-clcn1-myotonia","predicate":"dysfunction_associated_with","statement":"CLCN1 linkage and a disease-associated substitution implicated the muscle chloride channel in inherited myotonia.","claim_class":"mechanistic","status":"source_derived_draft","evidence_grade":"ungraded","direction":"context_dependent","is_public":true,"mechanism_event_id":"326d1336-bf37-53b0-855b-d9a2c06d9d5b","mechanism_event_label":"Muscle stiffness can arise from faulty chloride channels despite adequate nutrient supply.","subject":{"id":"9c673562-78ef-5195-82e7-c2fe01702c56","slug":"clcn1","display_name":"Human skeletal-muscle chloride channel ClC-1 / CLCN1","entity_type_key":"protein"},"object":{"id":"a757e396-9887-5214-84c3-b098d93aa6d9","slug":"skeletal-muscle-hyperexcitability","display_name":"Skeletal-muscle membrane hyperexcitability and myotonia","entity_type_key":"cellular_process"},"evidence_count":1,"mechanism_event":{"id":"326d1336-bf37-53b0-855b-d9a2c06d9d5b","stable_key":"4df6a932-097e-563a-91fe-5dceec471ffd:chloride-clcn1-myotonia-event","event_type":"biochemical_relationship","label":"Muscle stiffness can arise from faulty chloride channels despite adequate nutrient supply.","description":"CLCN1 linkage and a disease-associated substitution implicated the muscle chloride channel in inherited myotonia.","status":"provisional","compartment":null,"participants":[{"entity":{"id":"6f35aa38-f875-5759-b749-97a2f6480ff3","slug":"chloride-ion","display_name":"Chloride ion","entity_type_key":"ion"},"role":"channel_ion","stoichiometry":null,"state_label":"","sequence_order":0,"notes":""},{"entity":{"id":"9c673562-78ef-5195-82e7-c2fe01702c56","slug":"clcn1","display_name":"Human skeletal-muscle chloride channel ClC-1 / CLCN1","entity_type_key":"protein"},"role":"subject","stoichiometry":null,"state_label":"","sequence_order":1,"notes":""},{"entity":{"id":"a757e396-9887-5214-84c3-b098d93aa6d9","slug":"skeletal-muscle-hyperexcitability","display_name":"Skeletal-muscle membrane hyperexcitability and myotonia","entity_type_key":"cellular_process"},"role":"target","stoichiometry":null,"state_label":"","sequence_order":2,"notes":""}]},"contexts":[{"dimension":"availability_state","value_text":"machinery_impairment","comparator":null,"unit":null,"notes":"Imported condition classification; unverified.","entity":null},{"dimension":"evidence_span","value_text":"{\"source_cache\": \"artifacts/chloride-research/1379744.abstract.txt\", \"locator\": \"Exact primary indexed abstract; zero-based, end-exclusive Unicode character offsets\", \"file_sha256\": \"bbf542bf788774a420bad7ab2caa8bb57c09da9c31a285c06e9bc6ece9e1c320\", \"start_char\": 0, \"end_char\": 867, \"text_sha256\": \"bbf542bf788774a420bad7ab2caa8bb57c09da9c31a285c06e9bc6ece9e1c320\"}","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"experimental_model","value_text":"Linkage and sequence analysis","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"exposure","value_text":"Dominant/recessive myotonia pedigrees","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"limitations","value_text":"Early genetic report; different variants have different channel effects.","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"nutrient_topic","value_text":"Chloride research collection; topical membership is not evidence of a direct dietary effect.","comparator":null,"unit":null,"notes":"","entity":{"slug":"chloride","display_name":"Chloride","entity_type_key":"nutrient_element"}},{"dimension":"organism","value_text":"Human","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"plain_language","value_text":"Muscle stiffness can arise from faulty chloride channels despite adequate nutrient supply.","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"primary_references","value_text":"[chloride-p1379744] The skeletal muscle chloride channel in dominant and recessive human myotonia. (1992). https://pubmed.ncbi.nlm.nih.gov/1379744/ DOI: 10.1126/science.1379744","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"tissue_or_cell_type","value_text":"Skeletal muscle; German families","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"trigger_kind","value_text":"machinery_impairment","comparator":null,"unit":null,"notes":"Imported condition classification; unverified.","entity":null}],"evidence":[{"id":"6a323250-0bbb-5f17-a231-469f0c6f5186","evidence_kind":"source_excerpt","locator":"Lines 458-469","start_line":458,"end_line":469,"excerpt":"### chloride-clcn1-myotonia\nCLCN1 linkage and a disease-associated substitution implicated the muscle chloride channel in inherited myotonia.\nCondition category: machinery_impairment\nnutrient_topic: Chloride research collection; topical membership is not evidence of a direct dietary effect.\nplain_language: Muscle stiffness can arise from faulty chloride channels despite adequate nutrient supply.\norganism: Human\ntissue_or_cell_type: Skeletal muscle; German families\nexperimental_model: Linkage and sequence analysis\nlimitations: Early genetic report; different variants have different channel effects.\nexposure: Dominant/recessive myotonia pedigrees\nevidence_span: {\"source_cache\": \"artifacts/chloride-research/1379744.abstract.txt\", \"locator\": \"Exact primary indexed abstract; zero-based, end-exclusive Unicode character offsets\", \"file_sha256\": \"bbf542bf788774a420bad7ab2caa8bb57c09da9c31a285c06e9bc6ece9e1c320\", \"start_char\": 0, \"end_char\": 867, \"text_sha256\": \"bbf542bf788774a420bad7ab2caa8bb57c09da9c31a285c06e9bc6ece9e1c320\"}\n[chloride-p1379744] The skeletal muscle chloride channel in dominant and recessive human myotonia. (1992). https://pubmed.ncbi.nlm.nih.gov/1379744/ DOI: 10.1126/science.1379744","model_system":"Linkage and sequence analysis","directness":"author_interpretation","verification_status":"source_derived_draft","notes":"Exact curation-document quotation, not publisher quotation. Study references: [chloride-p1379744] The skeletal muscle chloride channel in dominant and recessive human myotonia. (1992). https://pubmed.ncbi.nlm.nih.gov/1379744/ DOI: 10.1126/science.1379744","relationship":"supports","weight":1.0,"link_notes":"","source":{"id":"1c2070d5-9f15-5945-b325-d0b49a32c04b","stable_key":"import-4df6a932-097e-563a-91fe-5dceec471ffd","title":"Chloride: transport, acid-base balance, nutrient interactions and loss states (2026-09-17)","document_type":"imported_text","citation_label":"AI-assisted literature curation; primary study URLs and scope retained in the document and extraction. Not publisher full text.","file_path":"","sha256":"e32e796f293a3287c6b8f4394881db94cc741ba96e3166e44da2dd14f208f645","revision_id":"8d5fd8ef-db54-5198-a368-23329a02d81b","review_status":"unverified_draft","notes":""}}],"relations":[],"conflicts":[],"corrections":[],"research":null}