MYOPATHY, CENTRONUCLEAR, 3

General Information (adopted from Orphanet):

Synonyms, Signs: CNM3
Number of Symptoms 10
OrphanetNr:
OMIM Id: 614408
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
[Omim]
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:0100305) Ring fibers 1 / 7739
3
(HPO:0003394) Muscle cramps 106 / 7739
4
(HPO:0001324) Muscle weakness 859 / 7739
5
(OMIM) Increased centralized internal nuclei 1 / 7739
6
(OMIM) Variably increased serum creatine kinase 1 / 7739
7
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
8
(OMIM) Muscle cramps during exercise 1 / 7739
9
(OMIM) Muscle biopsy showed myopathic changes 5 / 7739
10
(OMIM) Muscle weakness, lower limbs, during exercise 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Kerst et al. (2000) reported a boy with a mild form of centronuclear myopathy. He showed the first signs of myopathy at the age of 9 years when creatine kinase serum activities were elevated to 300-560 U/l. Three ...
Molecular genetics OMIM In a boy with myopathy and an increase of muscle fibers with centralized nuclei, Kerst et al. (2000) detected a heterozygous mutation in the MYF6 gene (A112S; 159991.0001). Protein-protein interaction of mutant MYF6 was reduced, and DNA-binding potential ...