Centrally nucleated skeletal muscle fibers

Symptom Information:

Symptom ID: HPO:0003687
Synonyms:
Central nuclei [HPO:0003687]
Centralized nuclei [HPO:0003687]
Centralized sarcomeric nuclei [HPO:0003687]
Central nuclei [OMIM:Central nuclei]
Centralized nuclei [OMIM:Centralized nuclei]
Quality:
Cross references:
OMIM: "Central nuclei" [OMIM:Central nuclei]
OMIM: "Centralized nuclei" [OMIM:Centralized nuclei]
Is a (Direct Parents):
HPO         Abnormality of muscle fibers
Is a (Whole tree): HPO:
All(HPO:0000001)
    Phenotypic abnormality(HPO:0000118)
       Abnormality of the musculature(HPO:0003011)
          Abnormality of muscle morphology(HPO:0011805)
             Abnormality of muscle fibers(HPO:0004303)
                Centrally nucleated skeletal muscle fibers(HPO:0003687)
MedDRA:
Database Frequency: 15 / 7739
Resource:

All diseases associated with this symptom:

Autosomal dominant centronuclear myopathy (Orphanet:169189)
Autosomal dominant limb-girdle muscular dystrophy type 1F (Orphanet:55595)
Autosomal dominant limb-girdle muscular dystrophy type 1H (Orphanet:238755)
Autosomal recessive centronuclear myopathy (Orphanet:169186)
Autosomal recessive limb-girdle muscular dystrophy type 2G (Orphanet:34514)
Autosomal recessive limb-girdle muscular dystrophy type 2H (Orphanet:1878)
Congenital fiber-type disproportion myopathy (Orphanet:2020)
Early-onset myopathy with fatal cardiomyopathy (Orphanet:289377)
Fetal akinesia-cerebral and retinal hemorrhage syndrome (Orphanet:363409)
Hyaline body myopathy (Orphanet:53698)
INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE WITH OR WITHOUTFRONTOTEMPORAL DEMENTIA 2 (OMIM:615422)
MYOPATHY, HYALINE BODY, AUTOSOMAL RECESSIVE (OMIM:255160)
MYOPATHY, MYOSIN STORAGE (OMIM:608358)
Marinesco-Sjögren syndrome (Orphanet:559)
VACUOLAR NEUROMYOPATHY (OMIM:601846)