MCID: ATS431
MIFTS: 10

Autosomal Recessive Distal Myopathy

Categories: Bone diseases, Genetic diseases, Muscle diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Autosomal Recessive Distal Myopathy

MalaCards integrated aliases for Autosomal Recessive Distal Myopathy:

Name: Autosomal Recessive Distal Myopathy 58

Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

ICD10 via Orphanet 33 G71.0
Orphanet 58 ORPHA206653

Summaries for Autosomal Recessive Distal Myopathy

MalaCards based summary : Autosomal Recessive Distal Myopathy is related to miyoshi muscular dystrophy 1 and miyoshi muscular dystrophy.

Related Diseases for Autosomal Recessive Distal Myopathy

Diseases in the Myopathy, Distal, Infantile-Onset family:

Myopathy, Distal, 1 Myopathy, Distal, 3
Myopathy, Distal, 4 Myopathy, Distal, 5
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant Cav3-Related Distal Myopathy
Autosomal Recessive Distal Myopathy Autosomal Dominant Distal Myopathy
Adult-Onset Distal Myopathy Due to Vcp Mutation Klhl9-Related Early-Onset Distal Myopathy

Diseases related to Autosomal Recessive Distal Myopathy via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 miyoshi muscular dystrophy 1 11.1
2 miyoshi muscular dystrophy 10.3
3 myopathy 10.3
4 nonaka myopathy 10.2

Symptoms & Phenotypes for Autosomal Recessive Distal Myopathy

Drugs & Therapeutics for Autosomal Recessive Distal Myopathy

Search Clinical Trials , NIH Clinical Center for Autosomal Recessive Distal Myopathy

Genetic Tests for Autosomal Recessive Distal Myopathy

Anatomical Context for Autosomal Recessive Distal Myopathy

Publications for Autosomal Recessive Distal Myopathy

Articles related to Autosomal Recessive Distal Myopathy:

(show all 17)
# Title Authors PMID Year
1
Non-GNE Quadriceps Sparing Distal Myopathy in an Iranian Jewish Patient. 61
31135625 2019
2
GNE myopathy in Chinese population: hotspot and novel mutations. 61
30390020 2019
3
A novel recessive TTN founder variant is a common cause of distal myopathy in the Serbian population. 61
28295036 2017
4
Missing genetic variations in GNE myopathy: rearrangement hotspots encompassing 5'UTR and founder allele. 61
27829678 2017
5
Atypical Miyoshi distal myopathy: A case report. 61
27882118 2016
6
Calf heads on a trophy sign: Miyoshi myopathy. 61
26167036 2015
7
Mutational spectrum and clinical features in 35 unrelated mainland Chinese patients with GNE myopathy. 61
25986339 2015
8
Early detection of cardiac involvement in Miyoshi myopathy: 2D strain echocardiography and late gadolinium enhancement cardiovascular magnetic resonance. 61
20497525 2010
9
Homozygosity and linkage disequilibrium mapping of autosomal recessive distal myopathy (Nonaka distal myopathy). 61
11721884 2001
10
Prominent inflammatory changes on muscle biopsy in patients with Miyoshi myopathy. 61
10545047 1999
11
Miyoshi myopathy in Saudi Arabia: clinical, electrophysiological, histopathological and radiological features. 61
9673986 1998
12
Autosomal recessive distal muscular dystrophy. 61
9412850 1997
13
Gene locus for autosomal recessive distal myopathy with rimmed vacuoles maps to chromosome 9. 61
9124799 1997
14
Intranuclear and cytoplasmic filamentous inclusions in distal myopathy (Welander). 61
1656692 1991
15
Autosomal recessive distal myopathy. 61
3350979 1988
16
High serum levels of creatine kinase: asymptomatic prelude to distal myopathy. 61
3587269 1987
17
Autosomal recessive distal muscular dystrophy: a comparative study with distal myopathy with rimmed vacuole formation. 61
3985587 1985

Variations for Autosomal Recessive Distal Myopathy

Expression for Autosomal Recessive Distal Myopathy

Search GEO for disease gene expression data for Autosomal Recessive Distal Myopathy.

Pathways for Autosomal Recessive Distal Myopathy

GO Terms for Autosomal Recessive Distal Myopathy

Sources for Autosomal Recessive Distal Myopathy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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