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 58 74
Lethal Infantile Mitochondrial Myopathy 60 30
Limm 58 60
Myopathy, Mitochondrial, Lethal, Infantile 41
Lethal Infantile Mitochondrial Disease 60
Limd 60

Characteristics:

Orphanet epidemiological data:

60
lethal infantile mitochondrial myopathy
Inheritance: Mitochondrial inheritance; Age of onset: Infancy,Neonatal; Age of death: early childhood;

OMIM:

58
Inheritance:
mitochondrial

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


HPO:

33
mitochondrial myopathy, lethal, infantile:
Inheritance mitochondrial inheritance


Classifications:

Orphanet: 60  
Inborn errors of metabolism


External Ids:

OMIM 58 551000
ICD10 via Orphanet 35 G71.3
UMLS via Orphanet 75 C1838876
Orphanet 60 ORPHA254857
MedGen 43 C1838876
UMLS 74 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 severe global developmental delay

Description 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 10.0
2 mitochondrial myopathy 10.0

Symptoms & Phenotypes for Mitochondrial Myopathy, Lethal, Infantile

Human phenotypes related to Mitochondrial Myopathy, Lethal, Infantile:

60 33 (show all 14)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 renal insufficiency 60 33 frequent (33%) Frequent (79-30%) HP:0000083
2 severe global developmental delay 60 33 frequent (33%) Frequent (79-30%) HP:0011344
3 cardiomyopathy 60 33 frequent (33%) Frequent (79-30%) HP:0001638
4 progressive external ophthalmoplegia 60 33 frequent (33%) Frequent (79-30%) HP:0000590
5 severe lactic acidosis 60 33 frequent (33%) Frequent (79-30%) HP:0004900
6 seizures 60 33 occasional (7.5%) Occasional (29-5%) HP:0001250
7 neonatal respiratory distress 60 33 occasional (7.5%) Occasional (29-5%) HP:0002643
8 areflexia 60 33 occasional (7.5%) Occasional (29-5%) HP:0001284
9 lethargy 60 33 occasional (7.5%) Occasional (29-5%) HP:0001254
10 generalized neonatal hypotonia 60 33 occasional (7.5%) Occasional (29-5%) HP:0008935
11 fatal liver failure in infancy 60 33 occasional (7.5%) Occasional (29-5%) HP:0006583
12 myopathy 33 HP:0003198
13 lactic acidosis 33 HP:0003128
14 lethal infantile mitochondrial myopathy 33 HP:0009069

Symptoms via clinical synopsis from OMIM:

58
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

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 30 MT-TT

Anatomical Context for Mitochondrial Myopathy, Lethal, Infantile

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

42
Liver

Publications for Mitochondrial Myopathy, Lethal, Infantile

Articles related to Mitochondrial Myopathy, Lethal, Infantile:

# Title Authors Year
1
Asymmetric polarization and hysteresis behaviour in ferroelectric P(VDF-TrFE) (76 : 24) copolymer thin films spatially resolved via LIMM. ( 25714004 )
2015
2
Health economic evaluation of the Lund Integrated Medicines Management Model (LIMM) in elderly patients admitted to hospital. ( 23315436 )
2013
3
Acceptance and importance of clinical pharmacists' LIMM-based recommendations. ( 22252773 )
2012
4
Impact of the Lund Integrated Medicines Management (LIMM) model on medication appropriateness and drug-related hospital revisits. ( 21318595 )
2011
5
The process of identifying, solving and preventing drug related problems in the LIMM-study. ( 22081243 )
2011
6
Improved quality in the hospital discharge summary reduces medication errors--LIMM: Landskrona Integrated Medicines Management. ( 19557400 )
2009
7
A multi-intervention approach on drug therapy can lead to a more appropriate drug use in the elderly. LIMM-Landskrona Integrated Medicines Management. ( 19674217 )
2009
8
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. ( 18276565 )
2007
9
Mitochondrial tRNA(Thr) mutations and lethal infantile mitochondrial myopathy. ( 1379415 )
1992

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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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