MCID: PRX095
MIFTS: 12

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 58 60

Characteristics:

OMIM:

58
Inheritance:
? autosomal dominant


Classifications:

Orphanet: 60  
Rare neurological diseases


External Ids:

OMIM 58 600706
Orphanet 60 ORPHA521305
MedGen 43 C1833453
SNOMED-CT via HPO 70 249939004

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, lmna-related and myopathy. 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

Description 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, lmna-related 10.2
2 myopathy 10.2
3 muscular dystrophy 10.2

Symptoms & Phenotypes for Proximal Myopathy with Focal Depletion of Mitochondria

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

33
# Description HPO Frequency HPO Source Accession
1 proximal muscle weakness 33 HP:0003701
2 exercise-induced myalgia 33 HP:0003738
3 elevated serum creatine kinase 33 HP:0003236

Symptoms via clinical synopsis from OMIM:

58
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 Year
1
Proximal myopathy with focal depletion of mitochondria and megaconial congenital muscular dystrophy are allelic conditions caused by mutations in CHKB. ( 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
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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