LIMM
MCID: MTC115
MIFTS: 22

Mitochondrial Myopathy, Lethal, Infantile (LIMM)

Categories: Metabolic diseases, Rare diseases

Aliases & Classifications for Mitochondrial Myopathy, Lethal, Infantile

MalaCards integrated aliases for Mitochondrial Myopathy, Lethal, Infantile:

Name: Mitochondrial Myopathy, Lethal, Infantile 57 70
Lethal Infantile Mitochondrial Myopathy 58 29
Limm 57 58
Myopathy, Mitochondrial, Lethal, Infantile 39
Lethal Infantile Mitochondrial Disease 58
Limd 58

Characteristics:

Orphanet epidemiological data:

58
lethal infantile mitochondrial myopathy
Inheritance: Mitochondrial inheritance; Age of onset: Infancy,Neonatal; Age of death: early childhood;

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
mitochondrial

Miscellaneous:
death in early infancy
described in 3 unrelated infants (last curated january 2013)


HPO:

31
mitochondrial myopathy, lethal, infantile:
Inheritance mitochondrial inheritance


Classifications:

Orphanet: 58  
Inborn errors of metabolism


External Ids:

OMIM® 57 551000
ICD10 via Orphanet 33 G71.3
UMLS via Orphanet 71 C1838876
Orphanet 58 ORPHA254857
MedGen 41 C1838876
UMLS 70 C1838876

Summaries for Mitochondrial Myopathy, Lethal, Infantile

MalaCards based summary : Mitochondrial Myopathy, Lethal, Infantile, also known as lethal infantile mitochondrial myopathy, is related to myopathy and mitochondrial myopathy. An important gene associated with Mitochondrial Myopathy, Lethal, Infantile is MT-TT (Mitochondrially Encoded TRNA-Thr (ACN)). Affiliated tissues include liver, and related phenotypes are renal insufficiency and progressive external ophthalmoplegia

More information from OMIM: 551000

Related Diseases for Mitochondrial Myopathy, Lethal, Infantile

Diseases related to Mitochondrial Myopathy, Lethal, Infantile via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 myopathy 10.1
2 mitochondrial myopathy 10.1
3 lactic acidosis 10.0
4 acute leukemia 10.0

Symptoms & Phenotypes for Mitochondrial Myopathy, Lethal, Infantile

Human phenotypes related to Mitochondrial Myopathy, Lethal, Infantile:

58 31 (show all 15)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 renal insufficiency 58 31 frequent (33%) Frequent (79-30%) HP:0000083
2 progressive external ophthalmoplegia 58 31 frequent (33%) Frequent (79-30%) HP:0000590
3 severe global developmental delay 58 31 frequent (33%) Frequent (79-30%) HP:0011344
4 cardiomyopathy 58 31 frequent (33%) Frequent (79-30%) HP:0001638
5 severe lactic acidosis 58 31 frequent (33%) Frequent (79-30%) HP:0004900
6 neonatal respiratory distress 58 31 occasional (7.5%) Occasional (29-5%) HP:0002643
7 areflexia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001284
8 lethargy 58 31 occasional (7.5%) Occasional (29-5%) HP:0001254
9 generalized neonatal hypotonia 58 31 occasional (7.5%) Occasional (29-5%) HP:0008935
10 fatal liver failure in infancy 58 31 occasional (7.5%) Occasional (29-5%) HP:0006583
11 seizure 31 occasional (7.5%) HP:0001250
12 seizures 58 Occasional (29-5%)
13 myopathy 31 HP:0003198
14 lactic acidosis 31 HP:0003128
15 lethal infantile mitochondrial myopathy 31 HP:0009069

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Metabolic Features:
lactic acidosis

Laboratory Abnormalities:
mutant mtdna threonine transfer rna gene (mttt, ) of questionable etiology
variable respiratory chain enzyme deficiency

Cardiovascular Heart:
cardiomyopathy, mitochondrial

Clinical features from OMIM®:

551000 (Updated 20-May-2021)

Drugs & Therapeutics for Mitochondrial Myopathy, Lethal, Infantile

Search Clinical Trials , NIH Clinical Center for Mitochondrial Myopathy, Lethal, Infantile

Genetic Tests for Mitochondrial Myopathy, Lethal, Infantile

Genetic tests related to Mitochondrial Myopathy, Lethal, Infantile:

# Genetic test Affiliating Genes
1 Lethal Infantile Mitochondrial Myopathy 29 MT-TT

Anatomical Context for Mitochondrial Myopathy, Lethal, Infantile

MalaCards organs/tissues related to Mitochondrial Myopathy, Lethal, Infantile:

40
Liver

Publications for Mitochondrial Myopathy, Lethal, Infantile

Articles related to Mitochondrial Myopathy, Lethal, Infantile:

(show all 15)
# Title Authors PMID Year
1
Mitochondrial tRNA(Thr) mutations and lethal infantile mitochondrial myopathy. 57
1379415 1992
2
Mitochondrial tRNA(thr) mutation in fatal infantile respiratory enzyme deficiency. 57
1645537 1991
3
Evidence in a lethal infantile mitochondrial disease for a nuclear mutation affecting respiratory complexes I and IV. 57
2549452 1989
4
Space charge distributions in insulating polymers: A new non-contacting way of measurement. 61
25933869 2015
5
Asymmetric polarization and hysteresis behaviour in ferroelectric P(VDF-TrFE) (76 : 24) copolymer thin films spatially resolved via LIMM. 61
25714004 2015
6
Health economic evaluation of the Lund Integrated Medicines Management Model (LIMM) in elderly patients admitted to hospital. 61
23315436 2013
7
The transcriptional consequences of somatic amplifications, deletions, and rearrangements in a human lung squamous cell carcinoma. 61
23226101 2012
8
Acceptance and importance of clinical pharmacists' LIMM-based recommendations. 61
22252773 2012
9
Errors in medication history at hospital admission: prevalence and predicting factors. 61
22471836 2012
10
The process of identifying, solving and preventing drug related problems in the LIMM-study. 61
22081243 2011
11
Impact of the Lund Integrated Medicines Management (LIMM) model on medication appropriateness and drug-related hospital revisits. 61
21318595 2011
12
Improved quality in the hospital discharge summary reduces medication errors--LIMM: Landskrona Integrated Medicines Management. 61
19557400 2009
13
A multi-intervention approach on drug therapy can lead to a more appropriate drug use in the elderly. LIMM-Landskrona Integrated Medicines Management. 61
19674217 2009
14
Thermal diffusivity by laser intensity modulation method (LIMM-TD): a novel technique for the determination of thermal diffusivities and conductivities and its application to porous PZT and silica samples. 61
18276565 2007
15
A one-step two-particle latex immunoassay for the detection of Salmonella typhi endotoxin. 61
2273260 1990

Variations for Mitochondrial Myopathy, Lethal, Infantile

Expression for Mitochondrial Myopathy, Lethal, Infantile

Search GEO for disease gene expression data for Mitochondrial Myopathy, Lethal, Infantile.

Pathways for Mitochondrial Myopathy, Lethal, Infantile

GO Terms for Mitochondrial Myopathy, Lethal, Infantile

Sources for Mitochondrial Myopathy, Lethal, Infantile

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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