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A congenital myopathy in which a family of 6 siblings presented in infancy the picture of 'amyotonia congenita' and later in life a nonprogressive myopathy.
Features include: Myopathy and Nervous system problems (abnormality of the nervous system).
Organ System | Phenotype Count | Example Features |
|---|---|---|
Muscles | 1 | Myopathy |
Brain and nerves |
Biomarker and diagnostic research for Batten-Turner congenital myopathy has been reported in the published literature.
3 clinical trials registered, 2 recruiting. Interventions under study include other interventions and medical devices. Pipeline includes 1 NA. Research is primarily sponsored by academic and government institutions.
55 publications have been identified in PubMed for Batten-Turner congenital myopathy. Research spans Case Report / Case Series (44%), Basic Science / Preclinical (24%), and Review / Meta-Analysis (11%).
Research Type | Count | % of Total |
|---|---|---|
Patient case studies | 24 |
Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 6:57 PM UTC
Online Mendelian Inheritance in Man
Common questions about Batten-Turner congenital myopathy
Nervous system problems (abnormality of the nervous system) |
Laboratory research | 13 | 24% |
Research summaries | 6 | 11% |
New treatment approaches | 5 | 9% |
Testing and diagnosis research | 3 | 5% |
Clinical study results | 2 | 4% |
Disease patterns and progression | 2 | 4% |
Barington M (2026). [PMID: 41568526](https://pubmed.ncbi.nlm.nih.gov/41568526/). *Am J Med Genet A*. [Case Report / Case Series]
Katirji B (2026). [PMID: 42124386](https://pubmed.ncbi.nlm.nih.gov/42124386/). *Muscle Nerve*. [Review / Meta-Analysis]
Kinoshita M (2026). [PMID: 41442183](https://pubmed.ncbi.nlm.nih.gov/41442183/). *J Neurophysiol*. [Basic Science / Preclinical]
Frosio A (2026). [PMID: 42250385](https://pubmed.ncbi.nlm.nih.gov/42250385/). *Biomed Pharmacother*. [Basic Science / Preclinical]
Śliwińska B (2026). [PMID: 41603675](https://pubmed.ncbi.nlm.nih.gov/41603675/). *Neurol Neurochir Pol*. [Case Report / Case Series]
Sanaulla S (2026). [PMID: 42021513](https://pubmed.ncbi.nlm.nih.gov/42021513/). *Ann Afr Med*. [Case Report / Case Series]
Crayle JI (2026). [PMID: 42108746](https://pubmed.ncbi.nlm.nih.gov/42108746/). *Muscle Nerve*. [Review / Meta-Analysis]
van Doorn JLM (2026). [PMID: 42026742](https://pubmed.ncbi.nlm.nih.gov/42026742/). *Muscle Nerve*. [Diagnostic / Biomarker]
Spicer D (2026). [PMID: 41791994](https://pubmed.ncbi.nlm.nih.gov/41791994/). *Neuromuscul Disord*. [Case Report / Case Series]
Iturrate A (2026). [PMID: 41023410](https://pubmed.ncbi.nlm.nih.gov/41023410/). *Eur J Hum Genet*. [Basic Science / Preclinical]