mitochondrial DNA depletion syndrome type 2

An autosomal recessive disorder (OMIM:609560) characterised by childhood onset of muscle weakness and depletion of mtDNA in skeletal muscle. There is wide clinical variability, ranging from onset in infancy with rapid progression and early death due to respiratory failure, to a later onset with a slowly progressive myopathy.
Molecular pathology
Caused by defects of TK2, which encodes a deoxyribonucleoside kinase required for mitochondrial DNA synthesis.

单词	mitochondrial dna depletion syndrome type 2
释义	mitochondrial DNA depletion syndrome type 2 mitochondrial DNA depletion syndrome type 2 An autosomal recessive disorder (OMIM:609560) characterised by childhood onset of muscle weakness and depletion of mtDNA in skeletal muscle. There is wide clinical variability, ranging from onset in infancy with rapid progression and early death due to respiratory failure, to a later onset with a slowly progressive myopathy. Molecular pathology Caused by defects of TK2, which encodes a deoxyribonucleoside kinase required for mitochondrial DNA synthesis.
随便看	leprch lepre leprecaun leprechan leprechans leprechaun leprechaunish leprechaunism leprechaun leader leprechauns leprecon leprecorn leprecorns leprid lepro-b1 virus leprochaun leprocy leprolin leprology leproma lepromatous lepromatous/borderline lepromatous lepromatous leprosy lepromin lepromin reaction