Congenital myopathy with internal nuclei and atypical cores

General Information (adopted from Orphanet):

Synonyms, Signs: CNM4
Centronuclear myopathy type 4
Number of Symptoms 16
OrphanetNr: 319160
OMIM Id: 614807
ICD-10: G71.2
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant
[Orphanet]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: Congenital myopathy with cores
 -Rare genetic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
(HPO:0100543) Cognitive impairment 230 / 7739
2
(HPO:0003326) Myalgia 143 / 7739
3
(HPO:0001324) Muscle weakness 859 / 7739
4
(HPO:0010547) Muscle flaccidity 466 / 7739
5
(HPO:0008947) Infantile muscular hypotonia 482 / 7739
6
(HPO:0001252) Muscular hypotonia 990 / 7739
7
(OMIM) Internal nuclei 9 / 7739
8
(OMIM) Muscle weakness, distal more than proximal 1 / 7739
9
(OMIM) Loss of sarcomeric striations 1 / 7739
10
(OMIM) Easy fatigue 1 / 7739
11
(OMIM) Fiber-type variability 1 / 7739
12
(OMIM) Cognitive impairment, mild 15 / 7739
13
(OMIM) Protein aggregates immunopositive for actin and desmin 1 / 7739
14
(OMIM) Central cores seen on muscle biopsy 1 / 7739
15
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
16
(OMIM) Normal serum creatine kinase 12 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Majczenko et al. (2012) reported a family in which 5 individuals had early-onset myopathy. Features included neonatal hypotonia or increased falls with distal more than proximal muscle involvement, myalgias, and mild to moderate overall motor impairment. Ambulation was ...
Molecular genetics OMIM In affected members of a family with centronuclear myopathy-4, Majczenko et al. (2012) identified a heterozygous mutation in the CCDC78 gene (614666.0001). The mutation was found by linkage analysis followed by whole-exome capture and next-generation gene sequencing. Expression ...