Lethal infantile mitochondrial myopathy

General Information (adopted from Orphanet):

Synonyms, Signs: LIMM
LIMD
Lethal infantile mitochondrial disease
Number of Symptoms 13
OrphanetNr: 254857
OMIM Id: 551000
ICD-10: G71.3
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Mitochondrial
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Maternally-inherited mitochondrial myopathy
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare neurologic disease

Comment:

Mitochondrial tRNA(thr) mutations cause fatal infantile respiratory enzyme deficiency and lethal infantile mitochondrial myopathy (PMID:1645537, 1379415).

Symptom Information: Sort by abundance 

1
 (HPO:0003128) Lactic acidosis 1645537 IBIS 116 / 7739
2
 (HPO:0001638) Cardiomyopathy 2549452 IBIS 192 / 7739
3
 (HPO:0008972) Decreased activity of mitochondrial respiratory chain 1645537 IBIS 34 / 7739
4
 (HPO:0011923) Decreased activity of mitochondrial complex I 2549452 IBIS 35 / 7739
5
 (HPO:0011924) Decreased activity of mitochondrial complex III 1645537 IBIS 22 / 7739
6
 (HPO:0008347) Decreased activity of mitochondrial complex IV 1645537 IBIS 31 / 7739
7
 (HPO:0003198) Myopathy 1379415 IBIS 151 / 7739
8
 (HPO:0006558) Decreased mitochondrial complex III activity in liver tissue 1645537 IBIS 3 / 7739
9
 (HPO:0003800) Muscle abnormality related to mitochondrial dysfunction 1379415 IBIS 3 / 7739
10
 (HPO:0009069) Lethal infantile mitochondrial myopathy Very frequent [IBIS] 1379415 IBIS 2 / 7739
11
 (HPO:0001622) Premature birth 1645537 IBIS 100 / 7739
12
 (HPO:0001522) Death in infancy 1379415 IBIS 275 / 7739
13
 (HPO:0003811) Neonatal death 1645537 IBIS 44 / 7739

Associated genes:

MT-TT (mitochondrially encoded tRNA threonine);

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Molecular genetics OMIM Yoon et al. (1991) attributed certain cases of lethal infantile mitochondrial myopathy (LIMM) to mutations in the mtDNA threonine tRNA gene (MTTT). The 2 patients in their study had severe respiratory chain enzyme deficiency and associated lactic acidosis ...