Genetic Diagnosis and Therapeutic Strategies in Metabolic and Dystrophic Myopathies
A special issue of Genes (ISSN 2073-4425). This special issue belongs to the section "Human Genomics and Genetic Diseases".
Deadline for manuscript submissions: closed (31 May 2019) | Viewed by 406
Special Issue Editor
Special Issue Information
Dear Colleagues,
This Special Issue, “Genetic Diagnosis and Therapeutic Strategies in Metabolic and Dystrophic Myopathies” focuses on studies on genes or proteins expressed in Limb-Girdle, Myotonic dystrophy type 1 (DM1) DM1 and Lipid Storage Myopathies, including fibroblast, iPS cells or with Drosophila or Zebrafish models.
In the last year, numerous advancements in novel pathogenetic mechanisms and new therapeutic tools and strategies in the field of rare dystrophic and metabolic neuromuscular diseases have been developed.
Limb-girdle muscular dystrophies (LGMDs) are a group of genetically heterogeneous disorders characterized by progressive proximal muscle weakness. According to the recent classification, LGMDs are divided into two major groups, recessive and dominant. Therapeutic strategies are needed and animal cell studies are useful.
DM1 and DM2 are multisystemic disorders that affect the brain, skeletal, heart, and smooth muscle. The pathogenesis of these autosomal dominant disorders is associated with the expansion of CTG repeats in the 3'-UTR of the DMPK gene or a quadriplet and cause a toxic RNA aggregation in nuclear foci.
Lipid storage myopathies (LSMs), due to Carnitine, Coenzyme-Q or Riboflavin deficiency, are a heterogeneous group of genetic disorders that present with abnormal lipid storage in multiple body organs, typically muscle. Patients can clinically present with skeletal muscle weakness, myalgia, and extreme fatigue or cardiomyopathy. An early diagnosis is crucial and some LSMs can be managed by supplementation with diet or vitamins.
This Special Issue will highlight molecular and genetic pathways, tissue/cell dysfunction, diagnostic methods, biomarkers and therapeutic developments in these disorders.
Prof. Corrado Angelini
Guest Editor
Manuscript Submission Information
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Keywords
- genes
- LGMD
- DM1
- metabolic myopathies
- biomarkers
