MYOPATHY WITH GIANT ABNORMAL MITOCHONDRIA

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 10
OrphanetNr:
OMIM Id: 255140
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
 (HPO:0001510) Growth delay 295 / 7739
2
 (HPO:0001939) Abnormality of metabolism/homeostasis 328 / 7739
3
 (HPO:0003701) Proximal muscle weakness 105 / 7739
4
 (HPO:0003198) Myopathy 151 / 7739
5
 (HPO:0003797) Limb-girdle muscle atrophy 8 / 7739
6
 (HPO:0001252) Muscular hypotonia 990 / 7739
7
 (OMIM) Hypotonia. Proximal muscle weakness. Limb-girdle myopathy. 1 / 7739
8
 (OMIM) Cytochemical and EM muscle studies show large, bizarre mitochondria but normal mitochondria in vascular smooth muscle, leukocytes, and intramyal nerves. 1 / 7739
9
 (OMIM) Normal basal metabolic rate. 1 / 7739
10
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: