MYOPATHY, GRANULOVACUOLAR LOBULAR, WITH ELECTRICAL MYOTONIA

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 8
OrphanetNr:
OMIM Id: 254950
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:0001939) Abnormality of metabolism/homeostasis 328 / 7739
2
 (HPO:0003202) Skeletal muscle atrophy 281 / 7739
3
 (HPO:0002486) Myotonia 29 / 7739
4
 (HPO:0001324) Muscle weakness 859 / 7739
5
 (OMIM) No clinical myotonia. 1 / 7739
6
 (OMIM) Electrical myotonia. Muscle biopsy shows vacuoles containing hematoxylinophilic granules, and in 30% of type I fibers, myofibrillar elements demarcate the sarcoplasm into lobules. 1 / 7739
7
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
8
 (OMIM) Muscle weakness. Selective muscle wasting. 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: