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View article: Cox10 Novel Variant in a Lebanese Female Patient with Congenital Cataracts
Cox10 Novel Variant in a Lebanese Female Patient with Congenital Cataracts Open
Mitochondrial disorders can present with a very wide clinical variability depending on the affected gene. Novel mutations in mitochondrial diseases are being identified more frequently than the past decades in the Lebanese population, wher…
View article: First Report of A Lebanese Patient With TK2 Related Myopathic Syndrome
First Report of A Lebanese Patient With TK2 Related Myopathic Syndrome Open
Congenital Neuromuscular disorders are individually very rare but collectively very common, particularly in societies with very high rates of consanguinity. Their diagnosis yet remains challenging and many underdiagnosed. During the infect…