MCID: MYP150
MIFTS: 13

Myopathy, Centronuclear, 6, with Fiber-Type Disproportion

Categories: Genetic diseases

Aliases & Classifications for Myopathy, Centronuclear, 6, with Fiber-Type Disproportion

MalaCards integrated aliases for Myopathy, Centronuclear, 6, with Fiber-Type Disproportion:

Name: Myopathy, Centronuclear, 6, with Fiber-Type Disproportion 57 75 6
Cnm6 57 75
Centronuclear Myopathy 6 with Fiber-Type Disproportion 57

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
slowly progressive
onset in infancy or early childhood
one patient had a favorable response to anticholinesterase inhibitors
three consanguineous families have been reported (last curated november 2017)


Classifications:



External Ids:

OMIM 57 617760
MeSH 44 D020914

Summaries for Myopathy, Centronuclear, 6, with Fiber-Type Disproportion

UniProtKB/Swiss-Prot : 75 Myopathy, centronuclear, 6, with fiber-type disproportion: A form of centronuclear myopathy, a congenital muscle disorder characterized by progressive muscular weakness and wasting involving mainly limb girdle, trunk, and neck muscles. It may also affect distal muscles. Weakness may be present during childhood or adolescence or may not become evident until the third decade of life. Ptosis is a frequent clinical feature. The most prominent histopathologic features include high frequency of centrally located nuclei in muscle fibers not secondary to regeneration, radial arrangement of sarcoplasmic strands around the central nuclei, and predominance and hypotrophy of type 1 fibers. CNM6 is an autosomal recessive, slowly progressive form with onset in infancy or early childhood.

MalaCards based summary : Myopathy, Centronuclear, 6, with Fiber-Type Disproportion, is also known as cnm6. An important gene associated with Myopathy, Centronuclear, 6, with Fiber-Type Disproportion is MAP3K20 (Mitogen-Activated Protein Kinase Kinase Kinase 20).

OMIM : 57 CNM6 is an autosomal recessive, slowly progressive congenital myopathy with onset in infancy or early childhood. Patients may be hypotonic at birth, but all show delayed motor development and walking difficulties due to muscle weakness mainly affecting the proximal lower and upper limbs. Other features include scapular winging, scoliosis, and mildly decreased respiratory vital capacity. The phenotype and muscle biopsy abnormalities are variable, although centralized nuclei and fiber-type disproportion appear to be a common finding on muscle biopsy. For a discussion of genetic heterogeneity of centronuclear myopathy, see CNM1 (160150). (617760)

Related Diseases for Myopathy, Centronuclear, 6, with Fiber-Type Disproportion

Symptoms & Phenotypes for Myopathy, Centronuclear, 6, with Fiber-Type Disproportion

Symptoms via clinical synopsis from OMIM:

57
Skeletal Spine:
scoliosis
lordosis

Neurologic Central Nervous System:
waddling gait
delayed motor development
impaired walking

Respiratory:
decreased vital capacity, mild

Skeletal:
proximal contractures (in some patients)

Muscle Soft Tissue:
muscle cramps
increased connective tissue
distal muscle weakness
proximal muscle weakness
easy fatigability
more
Laboratory Abnormalities:
normal or mildly increased serum creatine kinase

Chest Ribs Sternum Clavicles And Scapulae:
winged scapula


Clinical features from OMIM:

617760

Drugs & Therapeutics for Myopathy, Centronuclear, 6, with Fiber-Type Disproportion

Search Clinical Trials , NIH Clinical Center for Myopathy, Centronuclear, 6, with Fiber-Type Disproportion

Genetic Tests for Myopathy, Centronuclear, 6, with Fiber-Type Disproportion

Anatomical Context for Myopathy, Centronuclear, 6, with Fiber-Type Disproportion

Publications for Myopathy, Centronuclear, 6, with Fiber-Type Disproportion

Variations for Myopathy, Centronuclear, 6, with Fiber-Type Disproportion

ClinVar genetic disease variations for Myopathy, Centronuclear, 6, with Fiber-Type Disproportion:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 MAP3K20 NM_016653.2(MAP3K20): c.490_491delAT (p.Met164Valfs) deletion Pathogenic GRCh37 Chromosome 2, 174055813: 174055814
2 MAP3K20 NM_016653.2(MAP3K20): c.490_491delAT (p.Met164Valfs) deletion Pathogenic GRCh38 Chromosome 2, 173191085: 173191086
3 MAP3K20 NM_016653.2(MAP3K20): c.515G> A (p.Trp172Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 2, 174055838: 174055838
4 MAP3K20 NM_016653.2(MAP3K20): c.515G> A (p.Trp172Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 2, 173191110: 173191110
5 MAP3K20 NM_016653.2(MAP3K20): c.282dup (p.Asn95Terfs) duplication Pathogenic GRCh38 Chromosome 2, 173182888: 173182888
6 MAP3K20 NM_016653.2(MAP3K20): c.282dup (p.Asn95Terfs) duplication Pathogenic GRCh37 Chromosome 2, 174047616: 174047616

Expression for Myopathy, Centronuclear, 6, with Fiber-Type Disproportion

Search GEO for disease gene expression data for Myopathy, Centronuclear, 6, with Fiber-Type Disproportion.

Pathways for Myopathy, Centronuclear, 6, with Fiber-Type Disproportion

GO Terms for Myopathy, Centronuclear, 6, with Fiber-Type Disproportion

Sources for Myopathy, Centronuclear, 6, with Fiber-Type Disproportion

3 CDC
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9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
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30 HGMD
31 HMDB
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33 ICD10
34 ICD10 via Orphanet
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58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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