Mitochondrial Myopathy with Lactic Acidosis (MMLA)

Mitochondrial Myopathy with Lactic Acidosis(来自ICD-11)
别称:
Mmla
Mitochondrial Myopathy-Lactic Acidosis-Deafness Syndrome
Myopathy, Mitochondrial, with Lactic Acidosis
Mitochondrial Myopathy Lactic Acidosis
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Mitochondrial Myopathy with Lactic Acidosis, also known as mmla, is related to mitochondrial myopathy-lactic acidosis-deafness syndrome and mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes. An important gene associated with Mitochondrial Myopathy with Lactic Acidosis is PNPLA8 (Patatin Like Phospholipase Domain Containing 8). Affiliated tissues include monocytes and heart, and related phenotypes are seizure and spasticity
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MALACARDS
AR
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5

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