PROXIMAL MYOPATHY WITH FOCAL DEPLETION OF MITOCHONDRIA

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 6
OrphanetNr:
OMIM Id: 600706
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance:
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0003236) Elevated serum creatine phosphokinase 214 / 7739
2
(HPO:0003738) Exercise-induced myalgia 19 / 7739
3
(HPO:0003701) Proximal muscle weakness 105 / 7739
4
(OMIM) Severe myalgias after exercise 1 / 7739
5
(OMIM) Large areas of about one-third of type II muscle fibers devoid of mitochondria with remaining mitochondria unusually large 1 / 7739
6
(OMIM) Mild proximal weakness 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Genge et al. (1995) described 2 sibs, a brother and sister, as well as a third unrelated female with severe myalgias after exercise. The asymptomatic father of the 2 sibs had an elevated creatine kinase level, suggesting autosomal ...