CNM6
MCID: MYP150
MIFTS: 16

Myopathy, Centronuclear, 6, with Fiber-Type Disproportion (CNM6)

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 58 76 6
Cnm6 58 76
Centronuclear Myopathy 6 with Fiber-Type Disproportion 58

Characteristics:

OMIM:

58
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)


HPO:

33
myopathy, centronuclear, 6, with fiber-type disproportion:
Onset and clinical course slow progression


Classifications:



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

UniProtKB/Swiss-Prot : 76 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). Affiliated tissues include skeletal muscle, and related phenotypes are rimmed vacuoles and scoliosis

OMIM : 58 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

Human phenotypes related to Myopathy, Centronuclear, 6, with Fiber-Type Disproportion:

33 (show all 13)
# Description HPO Frequency HPO Source Accession
1 rimmed vacuoles 33 very rare (1%) HP:0003805
2 scoliosis 33 HP:0002650
3 hyperlordosis 33 HP:0003307
4 skeletal muscle atrophy 33 HP:0003202
5 waddling gait 33 HP:0002515
6 motor delay 33 HP:0001270
7 easy fatigability 33 HP:0003388
8 proximal muscle weakness 33 HP:0003701
9 increased connective tissue 33 HP:0009025
10 generalized hypotonia 33 HP:0001290
11 calf muscle hypertrophy 33 HP:0008981
12 distal muscle weakness 33 HP:0002460
13 muscle spasm 33 HP:0003394

Symptoms via clinical synopsis from OMIM:

58
Skeletal Spine:
scoliosis
lordosis

Muscle Soft Tissue:
easy fatigability
muscle cramps
proximal muscle weakness
increased connective tissue
distal muscle weakness
more
Respiratory:
decreased vital capacity, mild

Skeletal:
proximal contractures (in some patients)

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

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

MalaCards organs/tissues related to Myopathy, Centronuclear, 6, with Fiber-Type Disproportion:

42
Skeletal Muscle

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 rs1293675104 GRCh37 Chromosome 2, 174055813: 174055814
2 MAP3K20 NM_016653.2(MAP3K20): c.490_491delAT (p.Met164Valfs) deletion Pathogenic rs1293675104 GRCh38 Chromosome 2, 173191085: 173191086
3 MAP3K20 NM_016653.2(MAP3K20): c.515G> A (p.Trp172Ter) single nucleotide variant Pathogenic rs1553578407 GRCh37 Chromosome 2, 174055838: 174055838
4 MAP3K20 NM_016653.2(MAP3K20): c.515G> A (p.Trp172Ter) single nucleotide variant Pathogenic rs1553578407 GRCh38 Chromosome 2, 173191110: 173191110
5 MAP3K20 NM_016653.2(MAP3K20): c.282dup (p.Asn95Terfs) duplication Pathogenic rs1553576774 GRCh38 Chromosome 2, 173182888: 173182888
6 MAP3K20 NM_016653.2(MAP3K20): c.282dup (p.Asn95Terfs) duplication Pathogenic rs1553576774 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 EFO
18 ExPASy
20 FMA
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33 HPO
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35 ICD10 via Orphanet
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45 MeSH
46 MESH via Orphanet
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58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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