MCID: MSC192
MIFTS: 13

Muscular Glycogenosis

Categories: Muscle diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Muscular Glycogenosis

MalaCards integrated aliases for Muscular Glycogenosis:

Name: Muscular Glycogenosis 58
Glycogen Storage Myopathy 58

Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

ICD10 via Orphanet 33 E74.0
Orphanet 58 ORPHA206959

Summaries for Muscular Glycogenosis

MalaCards based summary : Muscular Glycogenosis, also known as glycogen storage myopathy, is related to glycogen storage disease and myopathy. An important gene associated with Muscular Glycogenosis is PRKAG2 (Protein Kinase AMP-Activated Non-Catalytic Subunit Gamma 2). Affiliated tissues include heart.

Related Diseases for Muscular Glycogenosis

Diseases related to Muscular Glycogenosis via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 15)
# Related Disease Score Top Affiliating Genes
1 glycogen storage disease 10.6
2 myopathy 10.4
3 phosphorylase kinase deficiency 10.2
4 glycogen storage disease ixb 10.0
5 heart disease 10.0
6 congestive heart failure 10.0
7 hypotonia 10.0
8 atrial standstill 1 10.0
9 glycogen storage disease ii 10.0
10 cardiomyopathy, familial hypertrophic, 6 10.0
11 hypertrophic cardiomyopathy 10.0
12 intermittent claudication 10.0
13 muscular dystrophy 10.0
14 floppy infant syndrome 10.0
15 progressive muscular dystrophy 10.0

Graphical network of the top 20 diseases related to Muscular Glycogenosis:



Diseases related to Muscular Glycogenosis

Symptoms & Phenotypes for Muscular Glycogenosis

Drugs & Therapeutics for Muscular Glycogenosis

Search Clinical Trials , NIH Clinical Center for Muscular Glycogenosis

Genetic Tests for Muscular Glycogenosis

Anatomical Context for Muscular Glycogenosis

MalaCards organs/tissues related to Muscular Glycogenosis:

40
Heart

Publications for Muscular Glycogenosis

Articles related to Muscular Glycogenosis:

(show all 35)
# Title Authors PMID Year
1
A new mutation in PRKAG2 gene causing hypertrophic cardiomyopathy with conduction system disease and muscular glycogenosis. 61
16487706 2006
2
[Value of pulmonary gas exchange study during exercise in the diagnosis of a muscular glycogenosis]. 61
9974097 1999
3
Myophosphorylase deficiency affects muscle mitochondrial respiration as shown by 31P-MR spectroscopy in a case with associated multifocal encephalopathy. 61
7722538 1995
4
[A patient with lysosomal glycogen storage disease with normal acid maltase]. 61
8398237 1993
5
[Silent exercise-induced enzymatic myopathies at rest in adults. A cause of confusion with fibromyalgia]. 61
1386455 1992
6
[Clinical and biochemical correlations in certain metabolic myopathies]. 61
1303789 1992
7
Exercise-induced muscle modifications: study of healthy subjects and patients with metabolic myopathies with MR imaging and P-31 spectroscopy. 61
1887044 1991
8
[Muscular glycogenoses]. 61
1896712 1991
9
[Another etiology of intermittent claudication of the jaw: Mac Ardle's disease (muscular glycogenosis type V)]. 61
1789538 1991
10
Diagnosis of muscular glycogenosis by in vivo natural abundance 13C NMR spectroscopy. 61
1822788 1991
11
Phosphofructokinase deficiency (Tarui disease) associated with hepatic glucuronyltransferase deficiency (Gilbert's syndrome): a case and family study. 61
2380035 1990
12
[A case of glycogen storage myopathy with acute heart failure]. 61
2205434 1990
13
[Muscular glycogenosis]. 61
6595433 1984
14
Infantile glycogen storage myopathy in a girl with phosphorylase kinase deficiency. 61
6285226 1982
15
Glycogen storage myopathy with abnormal lactate dehydrogenase. 61
6957732 1982
16
A female case of glycogen storage myopathy due to phosphorylase kinase deficiency. 61
6820425 1982
17
Late familial pseudo-myopathic muscular glycogenosis with alpha 1,4 glucosidase deficiency. Morphological, histoenzymological and biochemical approach. 61
1058451 1975
18
[Muscular glycogenosis. A biochemical study]. 61
4352048 1973
19
The floppy infant syndrome in muscular glycogenosis. 61
4263587 1972
20
Pseudoscleroderma concomitant with a muscular glycogenosis of unknown enzymatic defect. 61
4117086 1972
21
[Glycogen storage myopathy]. 61
5286085 1971
22
[Muscular glycogenosis (type 3) in a 15-year-old boy]. 61
5271604 1970
23
[Glycogenosis (findings in a case of hepato-muscular glycogenosis)]. 61
5265993 1968
24
[On 2 uncommon cases of cardio-muscular glycogenosis (with enzyme study)]. 61
5247206 1967
25
[Muscular glycogenosis of myopathic form caused by acid maltase deficiency]. 61
5217170 1966
26
[Muscular glycogenosis caused by alpha-1,4-glucosidase deficiency simulating progressive muscular dystrophy. (Clinical and enzyme study. Optic and electron microscopy)]. 61
5216071 1965
27
[Muscular glycogenosis. (Histochemical study of a particular form)]. 61
5216069 1965
28
[Muscular glycogenosis associated with arterial hypertension caused by an unilateral vasculorenal lesion]. 61
4284185 1965
29
A mild form of muscular glycogenosis in two brothers with alpha-1, 4-glucosidase deficiency. 61
5217754 1965
30
[ON A CASE OF HEPATO-MUSCULAR GLYCOGENOSIS]. 61
14226682 1964
31
[ON A CASE OF CARDIO-MUSCULAR GLYCOGENOSIS]. 61
14190809 1964
32
[GENERALIZED GLYCOGENOSIS (CARDIO-MUSCULAR GLYCOGENOSIS, POMPE'S DISEASE, OR TYPE II GLYCOGENOSIS)]. 61
14144647 1964
33
[CARDIO-MUSCULAR GLYCOGENOSIS. STUDY OF 2 CASES]. 61
14147538 1964
34
ENZYMES IN A GLYCOGEN STORAGE MYOPATHY. 61
16590498 1959
35
[Muscular glycogenosis]. 61
13431346 1957

Variations for Muscular Glycogenosis

Expression for Muscular Glycogenosis

Search GEO for disease gene expression data for Muscular Glycogenosis.

Pathways for Muscular Glycogenosis

GO Terms for Muscular Glycogenosis

Sources for Muscular Glycogenosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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