Mitochondrial myopathy with reversible cytochrome C oxidase deficiency

General Information (adopted from Orphanet):

Synonyms, Signs: RESPIRATORY CHAIN DEFICIENCY, INFANTILE, TRANSIENT
COX DEFICIENCY MYOPATHY, INFANTILE, TRANSIENT
MITOCHONDRIAL MYOPATHY, INFANTILE, TRANSIENT, DUE TO RESPIRATORY CHAIN DEFICIENCY
MMIT
Mitochondrial myopathy with reversible COX deficiency
Reversible infantile cytochrome c oxidase deficiency
Infantile reversible cytochrome c oxidase deficiency myopathy
Reversible infantile respiratory chain deficiency
Mitochondrial myopathy with reversible complex IV deficiency
Benign COX deficiency
Number of Symptoms 46
OrphanetNr: 254864
OMIM Id: 500009
ICD-10: G71.3
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Mitochondrial inheritance
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Maternally-inherited mitochondrial myopathy
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000158) Macroglossia 119 / 7739
2
 (HPO:0000467) Neck muscle weakness 29 / 7739
3
 (HPO:0002058) Myopathic facies 26 / 7739
4
 (HPO:0010628) Facial palsy 146 / 7739
5
 (HPO:0001315) Reduced tendon reflexes 160 / 7739
6
 (HPO:0001265) Hyporeflexia 208 / 7739
7
 (HPO:0003473) Fatigable weakness 39 / 7739
8
 (HPO:0001284) Areflexia 198 / 7739
9
 (HPO:0011968) Feeding difficulties 240 / 7739
10
 (HPO:0002240) Hepatomegaly 467 / 7739
11
 (HPO:0001510) Growth delay 295 / 7739
12
 (HPO:0001508) Failure to thrive 454 / 7739
13
 (HPO:0003128) Lactic acidosis 116 / 7739
14
 (HPO:0003234) Decreased plasma carnitine 9 / 7739
15
 (HPO:0002151) Increased serum lactate 92 / 7739
16
 (HPO:0003542) Increased serum pyruvate 18 / 7739
17
 (HPO:0003236) Elevated serum creatine phosphokinase 214 / 7739
18
 (HPO:0002747) Respiratory insufficiency due to muscle weakness 48 / 7739
19
 (HPO:0010547) Muscle flaccidity 466 / 7739
20
 (HPO:0009051) Increased muscle glycogen content 8 / 7739
21
 (HPO:0009058) Increased muscle lipid content 6 / 7739
22
 (HPO:0008947) Infantile muscular hypotonia 482 / 7739
23
 (HPO:0003688) Decreased activity of cytochrome C oxidase in muscle tissue 20 / 7739
24
 (HPO:0100293) Muscle fiber hypertrophy 6 / 7739
25
 (HPO:0003720) Generalized muscle hypertrophy 8 / 7739
26
 (HPO:0001324) Muscle weakness 859 / 7739
27
 (HPO:0003712) Skeletal muscle hypertrophy 42 / 7739
28
 (HPO:0001252) Muscular hypotonia 990 / 7739
29
 (HPO:0003200) Ragged-red muscle fibers 37 / 7739
30
 (HPO:0001290) Generalized hypotonia 51 / 7739
31
 (HPO:0003324) Generalized muscle weakness 48 / 7739
32
 (OMIM) Neck weakness 3 / 7739
33
 (OMIM) Macroglossia, transient 1 / 7739
34
 (OMIM) Increased serum pyruvate in acute stage 1 / 7739
35
 (OMIM) Hepatomegaly, transient 2 / 7739
36
 (OMIM) Variation in fiber size 8 / 7739
37
 (OMIM) Decreased cytochrome c oxidase (COX) activity and protein 1 / 7739
38
 (OMIM) Increased serum creatine kinase in acute stage 1 / 7739
39
 (OMIM) Dystrophic features 1 / 7739
40
 (OMIM) Increased glycogen 1 / 7739
41
 (OMIM) Increased serum lactate in acute stage 1 / 7739
42
 (OMIM) Large hypertrophied fibers 1 / 7739
43
 (OMIM) Decreased serum carnitine in acute stage 1 / 7739
44
 (OMIM) Muscle biopsy in acute stage shows increased numbers of abnormal mitochondria 1 / 7739
45
 (MedDRA:10024592) Lipids increased 1 / 7739
46
 (OMIM) Increased fibrosis 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Infantile mitochondrial myopathy due to reversible COX deficiency is a rare mitochondrial disorder characterized by onset in infancy of severe hypotonia and generalized muscle weakness associated with lactic acidosis, but is distinguished from other mitochondrial disorders in that ...
Clinical Description OMIM Jerusalem et al. (1973) described a girl with profound weakness and hypotonia in all but the ocular muscles in the first months of life. She also had hyporeflexia, hepatomegaly, macroglossia, and slight elevation of muscle enzymes in serum. ...
Molecular genetics OMIM In all 17 patients from 12 families with reversible infantile COX deficiency myopathy, Horvath et al. (2009) identified a homoplasmic 14674T-C transition in the MTTE gene (590025.0002). The mutation was not found in 200 German controls. High-resolution Northern ...