ArticleDisease markers2015
Serum Enzyme Profiles Differentiate Five Types of Muscular Dystrophy.
Article in Disease markers, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers, 1 of them a synthesis that pooled it.
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Who cites it
25 citing papers in PubMed, 1 synthesis or guideline pooled it.
- The toxic effects of chloroquine and hydroxychloroquine on skeletal muscle: a systematic review and meta-analysis.Scientific reports · 2021Pooled it
- Reconsidering a silent variant: SGCA's role in atypical cardiomyopathy.European journal of human genetics : EJHG · 2026Article
- Using muscle homing peptide CyPep10 to deliver phosphorodiamidate morpholino oligomers in the mdx mouse.Molecular therapy. Nucleic acids · 2025Article
- High-Density Lipoprotein-Associated Cholesterol Abnormalities in a Clinical Outcomes Study of Dysferlin-Deficient Limb-Girdle Muscular Dystrophy Type R2.Journal of cachexia, sarcopenia and muscle · 2025Article
- Diverse Cardiac Phenotype of Becker Muscular Dystrophy: Under-Recognized Subclinical Cardiomyopathy Due to Partial Dystrophin Deficiency in a Contemporary Era.Pediatric cardiology · 2025Article
- A Novel Splice Site Variant in COL6A1 Causes Ullrich Congenital Muscular Dystrophy in a Consanguineous Malian Family.Molecular genetics & genomic medicine · 2024Article
- French National Protocol for diagnosis and care of facioscapulohumeral muscular dystrophy (FSHD).Journal of neurology · 2024Review
- Co-occurrence ofPostepy psychiatrii neurologii · 2024Article
- Integrated genomic, proteomic and cognitive assessment in Duchenne Muscular Dystrophy suggest astrocyte centric pathology.Heliyon · 2023Article
- Next Generation Exon 51 Skipping Antisense Oligonucleotides for Duchenne Muscular Dystrophy.Nucleic acid therapeutics · 2023Article
- Limb girdle muscular disease caused byProceedings of the National Academy of Sciences of the United States of America · 2023Article
- The frequency of Duchenne muscular dystrophy/Becker muscular dystrophy and Pompe disease in children with isolated transaminase elevation: results from the observational VICTORIA study.Frontiers in pediatrics · 2023Article
- Efficacy of N-163 beta-glucan in beneficially improving biomarkers of relevance to muscle function in patients with muscular dystrophies in a pilot clinical study.Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology · 2023Article
- Novel mutations in theFrontiers in genetics · 2023Article
- Limb-girdle muscular dystrophy type 2B causes HDL-C abnormalities in patients and statin-resistant muscle wasting in dysferlin-deficient mice.Skeletal muscle · 2022Article
- Autosomal dominant Emery-Dreifuss muscular dystrophy caused by a mutation in the lamin A/C gene identified by exome sequencing: a case report.BMC pediatrics · 2022Article
- Clinical and pathological features of immune-mediated necrotising myopathies in a single-centre muscle biopsy cohort.BMC musculoskeletal disorders · 2022Article
- Clinical, Neurophysiological, Radiological, Pathological, and Genetic Features of Dysferlinopathy in Saudi Arabia.Frontiers in neuroscience · 2022Article
- A Journey with LGMD: From Protein Abnormalities to Patient Impact.The protein journal · 2021Review
- Exosome-mediated improvement in membrane integrity and muscle function in dystrophic mice.Molecular therapy : the journal of the American Society of Gene Therapy · 2021Article
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Authors and funding
8 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundDifferentiation among types of muscular dystrophy (MD) has remained challenging. In this retrospective study, we sought to develop a methodology for differentiation of MD types using analysis of serum enzyme profiles.
methodsThe serum levels of enzymes from 232 patients, including 120 with DMD, 36 with BMD, 36 with FSHD, 46 with LGMD, and 11 with EDMD, were evaluated.
resultsThe characteristic profiles of serum enzymes facilitated differentiation of these five types of MD. DMD was characterized by simultaneous elevation of ALT, AST, LDH, and ALP; BMD and LGMD were characterized by elevation of ALT, AST, and LDH; and FSHD and EDMD were characterized by a lack of abnormal serum enzyme levels. We further developed discriminant functions to distinguish BMD and LGMD. For LGMD, LGMD2B patients had significantly higher ALP levels than non-LGMD2B patients (98 ± 59 U/L versus 45 ± 9 U/L, resp., p < 0.05).
conclusionsOur approach enabled the determination of MD subtypes using serum enzyme profiles prior to genetic testing, which will increase the chance a mutation will be found in the first gene analyzed.
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