Ng Neurology. Notable This Week RESEARCH ARTICLE | Neuromuscular Disease
Ng Neurology. Notable This Week RESEARCH ARTICLE | Neuromuscular Disease
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Notable This Week RESEARCH ARTICLE | Neuromuscular Disease
Pathogenic mitochondrial tRNA (mt-tRNA) gene mutations represent a prominent cause of primary mitochondrial DNA (mtDNA)-related disease despite accounting for only 5%–10% of the mitochondrial genome.1...
GYG1 gene mutations in a family with polyglucosan body myopathy | Neurology Genetics
Defects in enzymes involved in glycogen metabolism result in glycogen storage diseases (GSDs), which may affect the skeletal and sometimes also the cardiac muscle. The most frequent abnormality causin...
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