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 57 59

Characteristics:

OMIM:

57
Inheritance:
? autosomal dominant


HPO:

32
proximal myopathy with focal depletion of mitochondria:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

OMIM 57 600706
Orphanet 59 ORPHA521305
MedGen 42 C1833453

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 proximal muscle weakness and exercise-induced myalgia

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:

32
# Description HPO Frequency HPO Source Accession
1 proximal muscle weakness 32 HP:0003701
2 exercise-induced myalgia 32 HP:0003738
3 elevated serum creatine kinase 32 HP:0003236

Symptoms via clinical synopsis from OMIM:

57
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. 8
7767093 1995
2
Late-onset megaconial myopathy in mice lacking group I Paks. 38
30791960 2019
3
Proximal myopathy with focal depletion of mitochondria and megaconial congenital muscular dystrophy are allelic conditions caused by mutations in CHKB. 38
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 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
Content
Loading form....