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lethal infantile mitochondrial myopathy

MeSH: C564017ORPHA: 254857

Contents

  1. 1. Overview
  2. 2. Available Treatments
  3. 3. Clinical Presentation
  4. 4. Classification & Codes

Overview

human disease

Available Treatments (0)

No treatments linked yet

Clinical trials or compassionate use may be available — consult a specialist.

Clinical Presentation

Signs and symptoms associated with lethal infantile mitochondrial myopathy, sourced from HPO and Orphanet clinical annotations.

Renal insufficiencyProgressive external ophthalmoplegiaCardiomyopathySevere lactic acidosisSevere global developmental delaySeizureLethargyAreflexiaNeonatal respiratory distressFatal liver failure in infancyGeneralized neonatal hypotonia

Classification & Codes

MeSH Code

C564017

Orphanet Code

ORPHA:254857
lethal infantile mitochondrial myopathy
MeSHC564017
OrphanetORPHA:254857
Treatments0 drug(s)
Symptoms on record11 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO