MCID: PRX095
MIFTS: 13

Proximal Myopathy with Focal Depletion of Mitochondria

Categories: Neuronal diseases, Rare diseases

Aliases & Classifications for Proximal Myopathy with Focal Depletion of Mitochondria

MalaCards integrated aliases for Proximal Myopathy with Focal Depletion of Mitochondria:

Name: Proximal Myopathy with Focal Depletion of Mitochondria 56 58

Characteristics:

OMIM:

56
Inheritance:
? autosomal dominant


HPO:

31
proximal myopathy with focal depletion of mitochondria:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

OMIM 56 600706
Orphanet 58 ORPHA521305
MedGen 41 C1833453
SNOMED-CT via HPO 68 249939004 263681008

Summaries for Proximal Myopathy with Focal Depletion of Mitochondria

MalaCards based summary : Proximal Myopathy with Focal Depletion of Mitochondria is related to muscular dystrophy, congenital, megaconial type and muscular dystrophy, congenital, lmna-related. An important gene associated with Proximal Myopathy with Focal Depletion of Mitochondria is CHKB (Choline Kinase Beta). Related phenotypes are elevated serum creatine kinase and proximal muscle weakness

More information from OMIM: 600706

Related Diseases for Proximal Myopathy with Focal Depletion of Mitochondria

Diseases related to Proximal Myopathy with Focal Depletion of Mitochondria via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 muscular dystrophy, congenital, megaconial type 10.2
2 muscular dystrophy, congenital, lmna-related 10.2
3 alacrima, achalasia, and mental retardation syndrome 10.2
4 encephalopathy, progressive, early-onset, with episodic rhabdomyolysis 10.2
5 myopathy 10.2
6 muscular dystrophy 10.2
7 congenital muscular dystrophy with intellectual disability 10.2

Graphical network of the top 20 diseases related to Proximal Myopathy with Focal Depletion of Mitochondria:



Diseases related to Proximal Myopathy with Focal Depletion of Mitochondria

Symptoms & Phenotypes for Proximal Myopathy with Focal Depletion of Mitochondria

Human phenotypes related to Proximal Myopathy with Focal Depletion of Mitochondria:

31
# Description HPO Frequency HPO Source Accession
1 elevated serum creatine kinase 31 HP:0003236
2 proximal muscle weakness 31 HP:0003701
3 exercise-induced myalgia 31 HP:0003738

Symptoms via clinical synopsis from OMIM:

56
Misc:
onset in adolescence

Muscle:
severe myalgias after exercise
mild proximal weakness

Lab:
elevated creatine kinase
large areas of about one-third of type ii muscle fibers devoid of mitochondria with remaining mitochondria unusually large

Clinical features from OMIM:

600706

Drugs & Therapeutics for Proximal Myopathy with Focal Depletion of Mitochondria

Search Clinical Trials , NIH Clinical Center for Proximal Myopathy with Focal Depletion of Mitochondria

Genetic Tests for Proximal Myopathy with Focal Depletion of Mitochondria

Anatomical Context for Proximal Myopathy with Focal Depletion of Mitochondria

Publications for Proximal Myopathy with Focal Depletion of Mitochondria

Articles related to Proximal Myopathy with Focal Depletion of Mitochondria:

# Title Authors PMID Year
1
Familial myopathy with conspicuous depletion of mitochondria in muscle fibers: a morphologically distinct disease. 56
7767093 1995
2
Late-onset megaconial myopathy in mice lacking group I Paks. 61
30791960 2019
3
Proximal myopathy with focal depletion of mitochondria and megaconial congenital muscular dystrophy are allelic conditions caused by mutations in CHKB. 61
26782016 2016

Variations for Proximal Myopathy with Focal Depletion of Mitochondria

Expression for Proximal Myopathy with Focal Depletion of Mitochondria

Search GEO for disease gene expression data for Proximal Myopathy with Focal Depletion of Mitochondria.

Pathways for Proximal Myopathy with Focal Depletion of Mitochondria

GO Terms for Proximal Myopathy with Focal Depletion of Mitochondria

Sources for Proximal Myopathy with Focal Depletion of Mitochondria

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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