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GENATLAS PHENOTYPE

last update : 12-12-2022

Symbol	MMLA
Location	7q31.1
Name	mitochondrial myopathy with lactic acidosis
Corresponding gene	PNPLA8
Main clinical features	severe progressive proximal muscle weakness resulting in loss of ambulation fine motor skills declined, speech became dysarthric, and hypotonicity progressed to spasticity also complex partial seizures, lactic acidosis, and increased serum pyruvate skeletal muscle biopsy showed abnormal mitochondria with disarray of cristae and dense globular osmiophilic inclusions on electron microscopy
Genetic determination	autosomal recessive
Function/system disorder	multisystem/generalized
Type	disease

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