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• W2905061288 abstract "By definition, congenital myopathy typically presents with skeletal muscle weakness and hypotonia at birth. Traditionally, congenital myopathy subtypes have been predominantly distinguished on the basis of the pathological hallmarks present on skeletal muscle biopsies. Many genes cause congenital myopathies when mutated, and a burst of new causative genes have been identified because of advances in gene sequencing technology. Recent discoveries include extending the disease phenotypes associated with previously identified genes and determining that genes formerly known to cause only dominant disease can also cause recessive disease. The more recently identified congenital myopathy genes account for only a small proportion of patients. Thus, the congenital myopathy genes remaining to be discovered are predicted to be extremely rare causes of disease, which greatly hampers their identification. Significant progress in the provision of molecular diagnoses brings important information and value to patients and their families, such as possible disease prognosis, better disease management, and informed reproductive choice, including carrier screening of parents. Additionally, from accurate genetic knowledge, rational treatment options can be hypothesised and subsequently evaluated in vitro and in animal models. A wide range of potential congenital myopathy therapies have been investigated on the basis of improved understanding of disease pathomechanisms, and some therapies are in clinical trials. Although large hurdles remain, promise exists for translating treatment benefits from preclinical models to patients with congenital myopathy, including harnessing proven successes for other genetic diseases." @default.
• W2905061288 created "2018-12-22" @default.
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• W2905061288 creator A5076037048 @default.
• W2905061288 date "2018-12-11" @default.
• W2905061288 modified "2023-10-16" @default.
• W2905061288 title "Recent advances in understanding congenital myopathies" @default.
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• W2905061288 doi "https://doi.org/10.12688/f1000research.16422.1" @default.
• W2905061288 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/6290972" @default.
• W2905061288 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/30631434" @default.
• W2905061288 hasPublicationYear "2018" @default.
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