Lethal infantile mitochondrial myopathy

Lethal infantile mitochondrial myopathy is a rare mitochondrial oxidative phosphorylation disorder characterized by progressive generalized hypotonia, progressive external ophthalmoplegia and severe lactic acidosis, which results in early fatality (days to months after birth). Patients may present with lethargy and areflexia and may associate additional features, such as cardiomyopathy, renal dysfunction, liver involvement and seizures.



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Total: 2 (papers)

   


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Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
1
(4.0%)		 14705112
 De novo mutations in the mitochondrial ND3 gene as a cause of infantile mitochondrial encephalopathy and complex I deficiency.
McFarland R, Kirby DM, Fowler KJ, Ohtake A, Ryan MT, Amor DJ, Fletcher JM, Dixon JW, Collins FA, Turnbull DM, Taylor RW, Thorburn DR.
Ann Neurol. 2004;55(1):58-64.
Mitochondrial encephalopathy
MT-ND4 MT-ND5 MT-ND6
g|SUB|T|10158|C g|SUB|T|10191|C rs199476117 rs267606890
DNA Mutational Analysis DNA, Mitochondrial Electron Transport Complex I Females Homo sapiens Infant, Newborn Leigh Disease Male Mitochondrial Encephalomyopathies Mutation Polymerase Chain Reaction Proteins Western Blotting
1
(4.0%)		 2549452
 Evidence in a lethal infantile mitochondrial disease for a nuclear mutation affecting respiratory complexes I and IV.
Zheng X, Shoffner JM, Lott MT, Voljavec AS, Krawiecki NS, Winn K, Wallace DC.
Neurology. 1989;39(9):1203-9.
Cardiomyopathy
Cardiomyopathies Cell Nucleus Cytochrome-c Oxidase Deficiency DNA Electron Microscopy Genes Histocytochemistry Homo sapiens Infant Liver Male Mitochondria Muscle Tissue Mutation Myocardium NAD(P)H Dehydrogenase (Quinone) Oxidation-Reduction Phosphorylation Protein Biosynthesis Quinone Reductases
        

Phenotype(s) retrieved from Orphanet

    Total: 11

HPO ID Term Frequency
HP:0000083 Renal insufficiency Frequent (79-30%)
HP:0000590 Progressive external ophthalmoplegia Frequent (79-30%)
HP:0001638 Cardiomyopathy Frequent (79-30%)
HP:0004900 Severe lactic acidosis Frequent (79-30%)
HP:0011344 Severe global developmental delay Frequent (79-30%)
HP:0001250 Seizures Occasional (29-5%)
HP:0001254 Lethargy Occasional (29-5%)
HP:0001284 Areflexia Occasional (29-5%)
HP:0002643 Neonatal respiratory distress Occasional (29-5%)
HP:0006583 Fatal liver failure in infancy Occasional (29-5%)
HP:0008935 Generalized neonatal hypotonia Occasional (29-5%)


Phenotype(s) retrieved from case reports

    Total: 2

HPO ID Term # of case reports
HP:0001638 Cardiomyopathy 1
HP:0006789 Mitochondrial encephalopathy 1


Causative gene(s) retrieved from Orphanet

    Total: 1

Gene Symbol Gene Name Entrez Gene ID
MT-TT mitochondrially encoded tRNA-Thr (ACN) 4576