Literature record
Myosin storage myopathy: slow skeletal myosin (MYH7) mutation in two isolated cases.
PMID 15699387 | DOI 10.1212/01.WNL.0000150581.37514.30 · Neurology · 2005
Myosin storage myopathy is a congenital myopathy characterized by subsarcolemmal hyaline bodies in type 1 muscle fibers, which are ATPase positive and thus contain myosin. Mutations recently were identified in the type 1 muscle fiber myosin gene (MYH7) in Swedish and Saudi families with myosin storage myopathy. The authors have identified the arginine 1845 tryptophan mutation found in the Swedish families in two isolated Belgian cases, indicating a critical role for myosin residue arginine 1845.
Source-grounded extraction
Validated evidence
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | MYH7 | “Myosin storage myopathy: slow skeletal myosin (MYH7) mutation in two isolated cases.” | 0.98 | hgnc_dict_v1 |
| phenotype | congenital myopathy | “Myosin storage myopathy: slow skeletal myosin (MYH7) mutation in two isolated cases.” | 0.93 | phenotype_alias_lexicon_v2 |
| population | Saudi Arabia | “Mutations recently were identified in the type 1 muscle fiber myosin gene (MYH7) in Swedish and Saudi families with myosin storage myopathy.” | 0.95 | saudi_context_rules_v1 |