DeCure for Congenital myopathy 7A, myosin storage, autosomal dominant
DeCure's autonomous Rare AI scientist is researching a drug-repurposing hypothesis for congenital myopathy 7A, myosin storage, autosomal dominant — screening already-approved drugs against its 1-gene Open Targets disease module to publish open-access research. Research is fast; the path to publication is funded in milestone stages.
Disease moduleCongenital myopathy 7A, myosin storage, autosomal dominant maps to a 1-gene Open Targets module — the target space DeCure's AI scientist screens approved drugs against.
DeCure.ai methodSignature reversal (LINCS) plus network proximity (STRING) rank already-approved drugs likely to perturb this module — the same engine that produces DeCure.ai's repurposing hypotheses.
Repurposing thesisScreening approved medicines against this disease module, then publishing the evidence for the strongest candidate. Known pharmacology and human exposure data make the first question sharper — they do not establish safety or efficacy in a new indication.
Research record
01
ResearchComing soon
Candidate research + dossier — target rationale, drug-repurposing thesis and evidence pack.proof: Published dossier + on-chain hash
02
ValidationComing soon
In-vitro biological validation at a contract research org (CRO).proof: CRO contract + in-vitro report
03
Peer review & paperComing soon
Peer-reviewed paper published open-access (preprint + journal).proof: DOI + open-access link + on-chain hash
Current lead
No approved-drug candidate for congenital myopathy 7a, myosin storage, autosomal dominant is corroborated in the literature DeepSearch retrieved. Some conditions are managed with non-pharmacological care — a device, surgery or physical therapy — rather than a medicine; that may be the case here, or the literature we found may simply be too sparse yet to support a drug-repurposing angle.
Molecular view
myosin heavy chain 7 (MYH7) — MYH7 is one of the genes genetically linked to this disease in Open Targets — shown as context, not as a drug target we're pursuing: no approved-drug candidate for this disease is yet corroborated in the literature we found.
Loading structure…
helix sheet adpdrag to rotate · scroll to zoom
RCSB Protein Data Bank · entry 9TPJ · 3.02 Å · ligand ADENOSINE-5'-DIPHOSPHATE (ADP). Experimental structure, not a prediction.
What the evidence adds up to
A 1992 report describes a 12-year-old girl with a congenital myopathy defined by type 2A muscle fibre uniformity and smallness, an unusual pattern since fibre-type predominance in congenital myopathies is usually confined to type I. No treatment or outcome data are given; the report is a single-case histological description.
A 2016 case report describes three relatives with autosomal dominant distal myopathy. Initial Sanger sequencing pointed to a RYR1 mutation (p.Glu294Lys), but muscle MRI features and family study led to re-analysis. Next-generation sequencing identified a novel MYH7 mutation (p.Ser1435Pro) that segregated with disease. The paper does not report any therapeutic intervention or quantitative outcomes such as survival or response rates; it only describes the diagnostic process.
A 2013 German report describes the first patient in that country with myosin storage myopathy due to a heterozygous R1845W missense mutation in MYH7. Clinical, myopathological and MRI findings are presented, but no treatment or numerical outcome data are provided. The paper is a single-case description.
A 1999 report describes a slowly progressive myopathy with unique crystalloid inclusions in type 2 fibres in a father and son, plus one unrelated individual. The inclusions were eosinophilic, purple on Gomori stain, and composed of vesicular profiles with double spokes at 60° angles. Immunohistochemistry did not reveal their chemical nature. No treatment or quantitative outcomes are reported. The paper proposes a new congenital myopathy with autosomal dominant or sporadic inheritance.
Evidence
Retrieved by DeepSearch across 234,678,978 indexed works and resolved on OpenAlex — ranked by citations, including the results that did not work.
Neuropediatrics · 1992 · 8 citations
Congenital Myopathy with Type 2A Muscle Fiber Uniformity and Smallness
AbstractWe describe a 12-year-old girl with congenital myopathy. ATPase histochemical reactions and immunocytochemical analysis of muscle fiber-type composition with monoclonal antibodies against slow, fast (2A and 2B) and fetal myosin demonstrate that this congenital disease is characterized by type 2A muscle fiber uniformity and smallness. This is an unusual feature for a congenital myopathy in which the fiber type predominance, when present, is confined to type I.
Myoimaging in the NGS era: the discovery of a novel mutation in MYH7 in a family with distal myopathy and core-like features â a case report
AbstractAbstract Background Myosin heavy chain 7 related myopathies are rare disorders characterized by a wide phenotypic spectrum and heterogeneous pathological features. In the present study, we performed clinical, morphological, genetic and imaging investigations in three relatives affected by autosomal dominant distal myopathy. Whilst earlier traditional Sanger investigations had pointed to the wrong gene as disease causative, next-generation sequencing allowed us to obtain the definitive molecular genetic diagnosis in the family. Case presentation The proposita, being found to harbor a novel heterozygous mutation in the RYR1 gene (p.Glu294Lys), was initially diagnosed with core myopathy. Subsequently, consideration of muscle magnetic resonance imaging (MRI) features and extension of family study led this diagnosis to be questioned. Use of next-generation sequencing analysis identified a novel mutation in the MYH7gene (p.Ser1435Pro) that segregated in the affected family members. Conclusions This study identified a novel mutation in MYH7 in a family where the conclusive molecular diagnosis was reached through a complicated path. This case report might raise awareness, among clinicians, of the need to interpret NGS data in combination with muscle MRI patterns so as to facilitate the pinpointing of the main molecular etiology in inherited muscle disorders.
Fortschritte der Neurologie · Psychiatrie · 2013 · 0 citations
L'abitante e il viaggiatore
AbstractMyopathies with pathological protein aggregates comprise a numerically significant group of sporadic and hereditary muscle disorders. A rare disease entity within the group of protein aggregate myopathies is the myosin storage myopathy, which is caused by heterozygous mutations in the MYH7 gene which encodes the slow/beta-myosin heavy chain. We report the clinical, myopathological and MRI findings in the first German patient suffering from a myosin storage myopathy due to a heterozygous R 1845W missense mutation.
Myopathy with hexagonally cross‐linked tubular arrays: A new autosomal dominant or sporadic congenital myopathy
AbstractWe describe a slowly progressive myopathy with unique crystalloid inclusions in type 2 muscle fibers in a father and his son, as well as one more unrelated individual. The inclusions were strongly eosinophilic and purple by the Gomori method. They were composed of vesicular profiles, approximately 20 nm in cross-diameter, connected by radially arranged double spokes arising at 60° angles. The inclusions were not related to any normal cellular organelle. Extensive immunohistochemical studies failed to reveal their chemical nature. It is suggested that this is a new congenital myopathy with characteristic intracytoplasmic inclusions, occurring sporadically or with an autosomal dominant pattern of inheritance. Ann Neurol 1999;45:512–515
Disease module: DeepOracle (Open Targets). Structures: RDKit from PubChem SMILES. Literature: retrieved by DeepSearch across 234,678,978 indexed works (targeted per-candidate search), resolved on OpenAlex.
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