Genetic Modifiers of Hereditary Neuromuscular Disorders and Cardiomyopathy
نویسندگان
چکیده
منابع مشابه
Genetic Modifiers for Neuromuscular Diseases.
Neuromuscular diseases, which encompass disorders that affect muscle and its innervation, are highly heritable. Genetic diagnosis now frequently pinpoints the primary mutation responsible for a given neuromuscular disease. However, the results from genetic testing indicate that neuromuscular disease phenotypes may vary widely, even in individuals with the same primary disease-causing mutation. ...
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Many neuromuscular disorders affect more than skeletal muscle. Because of the common structural and now more apparent molecular features between skeletal and cardiac muscles, many of the neuromuscular disorders also result in cardiovascular complications. Cardiomyopathy and conduction system diseases are the most frequent extramuscular features seen with many muscular dystrophies. The most comm...
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OBJECTIVE Dilated cardiomyopathy (DCM) is a major complication and leading cause of death in Duchenne muscular dystrophy (DMD). DCM onset is variable, suggesting modifier effects of genetic or environmental factors. We aimed to determine if polymorphisms previously associated with age at loss of independent ambulation (LoA) in DMD (rs28357094 in the SPP1 promoter, rs10880 and the VTTT/IAAM hapl...
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BACKGROUND With the exception of Huntington disease, the psychological and psychosocial impact of DNA testing for neurogenetic disorders has not been well studied. OBJECTIVE To evaluate the psychosocial impact of genetic testing for autosomal dominant forms of hereditary ataxia and neuromuscular disorders. Patients Fifty subjects at risk for autosomal dominant forms of spinocerebellar ataxia ...
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Background & Aims: Nearly 30 hereditary disorders in humans result from an increase in the number of copies of simple repeats in genomic DNA, including fragile X syndrome, myotonic dystrophy, Huntington’s disease, and Friedreich’s ataxia. One the most frequently occurring types of mutation is trinucleotide repeat expansion. The present study was conducted with the aim of investigating the cause...
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ژورنال
عنوان ژورنال: Cells
سال: 2021
ISSN: 2073-4409
DOI: 10.3390/cells10020349