ReviewCurrent neurology and neuroscience reports2011
Lipid storage myopathy.
Review in Current neurology and neuroscience reports, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 31 papers, 2 of them syntheses that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
31 citing papers in PubMed, 2 syntheses or guidelines pooled it, 87 citations in OpenAlex.
- The difference of variation types between late-onset multiple acyl-CoA dehydrogenase deficiency patients carrying biallelic and single heterozygous variations in ETFDH: a systematic review and meta-analysis.Orphanet journal of rare diseases · 2025Pooled it
- The male-to-female ratio in late-onset multiple acyl-CoA dehydrogenase deficiency: a systematic review and meta-analysis.Orphanet journal of rare diseases · 2024Pooled it
- Genotype-environment interaction drives the onset of riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency in carriers of single heterozygous ETFDH variants.Cell communication and signaling : CCS · 2026Article
- Exercise based Intervention For Metabolic Inflexibility Linked With Lipid Storage Myopathy Using Innovative CRISPRbioRxiv : the preprint server for biology · 2026Article
- A Case of Suspected Multiple Acyl-CoA Dehydrogenase Deficiency-Induced Encephalopathy.Case reports in critical care · 2026Article
- Clinical and Pathological Features of Flexural Deformities Associated with Myopathies in Foals.Veterinary sciences · 2025Article
- A novel ETFDH mutation identified in a patient with riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency.Intractable & rare diseases research · 2025Article
- A comparative study on riboflavin responsive multiple acyl-CoA dehydrogenation deficiency due to variants in FLAD1 and ETFDH gene.Journal of human genetics · 2024Article
- Lipid storage disease in 4 sibling superb birds-of-paradise (Veterinary pathology · 2024Article
- Electrical impedance myography method of measuring anisotropic tongue tissue.Physiological measurement · 2023Article
- Cardiogenic shock and asphyxial cardiac arrest due to glutaric aciduria type II.World journal of emergency medicine · 2023Article
- Article
- What Every Neuropathologist Needs to Know: The Muscle Biopsy.Journal of neuropathology and experimental neurology · 2020Review
- A novel homozygous missenseHuman genome variation · 2020Article
- Case Report: PNPLA2 Gene Complex Heterozygous Mutation Leading to Neutral Lipid Storage Disease With Myopathy.Frontiers in integrative neuroscience · 2020Article
- A pattern-based approach to the interpretation of skeletal muscle biopsies.Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc · 2019Review
- Metabolic lipid muscle disorders: biomarkers and treatment.Therapeutic advances in neurological disorders · 2019Review
- Lipid Myopathies.Journal of clinical medicine · 2018Review
- Article
- Persistent hypoglycemia associated with lipid storage myopathy in a paint foal.Journal of veterinary internal medicine · 2018Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
2 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Lipid storage myopathy (LSM) is pathologically characterized by prominent lipid accumulation in muscle fibers due to lipid dysmetabolism. Although extensive molecular studies have been performed, there are only four types of genetically diagnosable LSMs: primary carnitine deficiency (PCD), multiple acyl-coenzyme A dehydrogenase deficiency (MADD), neutral lipid storage disease with ichthyosis, and neutral lipid storage disease with myopathy. Making an accurate diagnosis, by specific laboratory tests including genetic analyses, is important for LSM as some of the patients are treatable: individuals with PCD show dramatic improvement with high-dose oral L-carnitine supplementation and increasing evidence indicates that MADD due to ETFDH mutations is riboflavin responsive.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.