Myopathy, Myofibrillar, 8 (MFM8)

Categories: Cancer diseases, Cardiovascular diseases, Genetic diseases, Muscle diseases, Neuronal diseases, Oral diseases, Rare diseases, Respiratory diseases, Smell/Taste diseases

Aliases & Classifications for Myopathy, Myofibrillar, 8

MalaCards integrated aliases for Myopathy, Myofibrillar, 8:

Name: Myopathy, Myofibrillar, 8 57 72 29 6
Myofibrillar Myopathy 8 12 15
Mfm8 57 72
Myopathy, Myofibrillar, Type 8 39



57 (Updated 05-Apr-2021)
autosomal recessive

slowly progressive
onset in childhood (range infancy to 8 years)


myopathy, myofibrillar, 8:
Inheritance autosomal recessive inheritance
Onset and clinical course slow progression


Summaries for Myopathy, Myofibrillar, 8

UniProtKB/Swiss-Prot : 72 Myopathy, myofibrillar, 8: A form of myofibrillar myopathy, a group of chronic neuromuscular disorders characterized at ultrastructural level by disintegration of the sarcomeric Z disk and myofibrils, and replacement of the normal myofibrillar markings by small dense granules, or larger hyaline masses, or amorphous material. MFM8 is an autosomal recessive form, clinically characterized by slowly progressive symmetrical weakness affecting both proximal and distal muscles, with normal to moderately elevated creatine kinase. Mild facial weakness, a high palate, nasal speech, and swallowing difficulties are typical features, mild restrictive lung disease is common, and late-onset cardiac involvement may be present.

MalaCards based summary : Myopathy, Myofibrillar, 8, also known as myofibrillar myopathy 8, is related to congenital muscular dystrophy-dystroglycanopathy a14 and autosomal recessive limb-girdle muscular dystrophy. An important gene associated with Myopathy, Myofibrillar, 8 is PYROXD1 (Pyridine Nucleotide-Disulphide Oxidoreductase Domain 1). Related phenotypes are scoliosis and ptosis

Disease Ontology : 12 A myofibrillar myopathy that is characterized by childhood onset of slowly progressive proximal muscle weakness and atrophy resulting in increased falls, gait problems, and difficulty running or climbing stairs, and has material basis in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the PYROXD1 gene on chromosome 12p12.

OMIM® : 57 Myofibrillar myopathy-8 is an autosomal recessive myopathy characterized by childhood onset of slowly progressive proximal muscle weakness and atrophy resulting in increased falls, gait problems, and difficulty running or climbing stairs. Upper and lower limbs are affected, and some individuals develop distal muscle weakness and atrophy. Ambulation is generally preserved, and patients do not have significant respiratory compromise. Muscle biopsy shows a mix of myopathic features, including myofibrillar inclusions and sarcomeric disorganization (summary by O'Grady et al., 2016). For a general phenotypic description and a discussion of genetic heterogeneity of myofibrillar myopathy, see MFM1 (601419). (617258) (Updated 05-Apr-2021)

Related Diseases for Myopathy, Myofibrillar, 8

Graphical network of the top 20 diseases related to Myopathy, Myofibrillar, 8:

Diseases related to Myopathy, Myofibrillar, 8

Symptoms & Phenotypes for Myopathy, Myofibrillar, 8

Human phenotypes related to Myopathy, Myofibrillar, 8:

31 (show all 28)
# Description HPO Frequency HPO Source Accession
1 scoliosis 31 occasional (7.5%) HP:0002650
2 ptosis 31 occasional (7.5%) HP:0000508
3 neonatal hypotonia 31 occasional (7.5%) HP:0001319
4 spinal rigidity 31 occasional (7.5%) HP:0003306
5 dental crowding 31 occasional (7.5%) HP:0000678
6 reduced vital capacity 31 occasional (7.5%) HP:0002792
7 distal joint laxity 31 occasional (7.5%) HP:0020152
8 dysphagia 31 HP:0002015
9 facial palsy 31 HP:0010628
10 high palate 31 HP:0000218
11 pes planus 31 HP:0001763
12 micrognathia 31 HP:0000347
13 elevated serum creatine kinase 31 HP:0003236
14 scapular winging 31 HP:0003691
15 easy fatigability 31 HP:0003388
16 nemaline bodies 31 HP:0003798
17 areflexia 31 HP:0001284
18 nasal speech 31 HP:0001611
19 pes cavus 31 HP:0001761
20 hyporeflexia 31 HP:0001265
21 tall stature 31 HP:0000098
22 respiratory tract infection 31 HP:0011947
23 frequent falls 31 HP:0002359
24 generalized amyotrophy 31 HP:0003700
25 neck muscle weakness 31 HP:0000467
26 gowers sign 31 HP:0003391
27 difficulty climbing stairs 31 HP:0003551
28 difficulty running 31 HP:0009046

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Abdomen Gastrointestinal:

Head And Neck Face:
facial muscle weakness
elongated face

Muscle Soft Tissue:
easy fatigability
gowers sign
difficulty climbing stairs
difficulty running
muscle weakness, proximal
nasal speech

Neurologic Central Nervous System:
frequent falls
normal or mildly delayed early gross motor development
gait difficulties due to muscle weakness

Head And Neck Mouth:
high-arched palate

respiratory infections
decreased vital capacity, mild (in some patients)

Skeletal Spine:
scoliosis, mild (in some patients)
spinal rigidity (in some patients)

Head And Neck Teeth:
crowded teeth (in some patients)

Skeletal Feet:
pes planus
pes cavus

Chest Ribs Sternum Clavicles And Scapulae:
scapular winging

Neurologic Peripheral Nervous System:
axonal sensory peripheral neuropathy, mild (in 1 family)

Growth Height:
tall stature

Head And Neck Neck:
neck muscle weakness

Laboratory Abnormalities:
increased serum creatine kinase

Head And Neck Eyes:
ptosis (in some patients)

distal joint laxity (in some patients)

Cardiovascular Heart:
decreased ejection fraction (in 1 patient, late-onset)

Clinical features from OMIM®:

617258 (Updated 05-Apr-2021)

Drugs & Therapeutics for Myopathy, Myofibrillar, 8

Search Clinical Trials , NIH Clinical Center for Myopathy, Myofibrillar, 8

Genetic Tests for Myopathy, Myofibrillar, 8

Genetic tests related to Myopathy, Myofibrillar, 8:

# Genetic test Affiliating Genes
1 Myopathy, Myofibrillar, 8 29 PYROXD1

Anatomical Context for Myopathy, Myofibrillar, 8

Publications for Myopathy, Myofibrillar, 8

Articles related to Myopathy, Myofibrillar, 8:

# Title Authors PMID Year
Variants in the Oxidoreductase PYROXD1 Cause Early-Onset Myopathy with Internalized Nuclei and Myofibrillar Disorganization. 6 57
27745833 2016
Myopathy associated with homozygous PYROXD1 pathogenic variants detected by genome sequencing. 6
32037607 2020
Impact of PYROXD1 deficiency on cellular respiration and correlations with genetic analyses of limb-girdle muscular dystrophy in Saudi Arabia and Sudan. 6
30345904 2018

Variations for Myopathy, Myofibrillar, 8

ClinVar genetic disease variations for Myopathy, Myofibrillar, 8:

# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PYROXD1 NM_024854.5(PYROXD1):c.1116G>C (p.Gln372His) SNV Pathogenic 372279 rs755208949 GRCh37: 12:21615796-21615796
GRCh38: 12:21462862-21462862
2 PYROXD1 NM_024854.5(PYROXD1):c.1160_1163dup (p.Lys388fs) Duplication Pathogenic 372282 rs1057518755 GRCh37: 12:21620457-21620458
GRCh38: 12:21467523-21467524
3 PYROXD1 NM_024854.5(PYROXD1):c.414+1G>A SNV Pathogenic 372281 rs1057518754 GRCh37: 12:21602626-21602626
GRCh38: 12:21449692-21449692
4 PYROXD1 NM_024854.5(PYROXD1):c.464A>G (p.Asn155Ser) SNV Pathogenic 372280 rs781565158 GRCh37: 12:21605064-21605064
GRCh38: 12:21452130-21452130
5 PYROXD1 NM_024854.5(PYROXD1):c.285+1G>A SNV Pathogenic 372278 rs369083786 GRCh37: 12:21598401-21598401
GRCh38: 12:21445467-21445467
6 PYROXD1 NM_024854.5(PYROXD1):c.343G>A (p.Gly115Arg) SNV Uncertain significance 1028346 GRCh37: 12:21602554-21602554
GRCh38: 12:21449620-21449620
7 PYROXD1 NM_024854.5(PYROXD1):c.617T>C (p.Ile206Thr) SNV Uncertain significance 1031411 GRCh37: 12:21608194-21608194
GRCh38: 12:21455260-21455260
8 PYROXD1 NM_024854.5(PYROXD1):c.1004_1006del (p.Gly335del) Deletion Uncertain significance 634627 rs1565554407 GRCh37: 12:21615682-21615684
GRCh38: 12:21462748-21462750

UniProtKB/Swiss-Prot genetic disease variations for Myopathy, Myofibrillar, 8:

# Symbol AA change Variation ID SNP ID
1 PYROXD1 p.Asn155Ser VAR_077902 rs781565158
2 PYROXD1 p.Gln372His VAR_077903 rs755208949

Expression for Myopathy, Myofibrillar, 8

Search GEO for disease gene expression data for Myopathy, Myofibrillar, 8.

Pathways for Myopathy, Myofibrillar, 8

GO Terms for Myopathy, Myofibrillar, 8

Biological processes related to Myopathy, Myofibrillar, 8 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell junction assembly GO:0034329 8.8 MYO9A LIMS2 FLNC

Molecular functions related to Myopathy, Myofibrillar, 8 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 actin binding GO:0003779 8.8 MYO9A MYBPC1 FLNC

Sources for Myopathy, Myofibrillar, 8

9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
31 HPO
32 ICD10
33 ICD10 via Orphanet
37 LifeMap
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
69 Tocris
71 UMLS via Orphanet
Loading form....