CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL RECESSIVE, TYPE 2A2B
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Autosomal recessive MFN2-related Charcot-Marie-Tooth disease with diaphragmatic weakness: Case report and literature review.
|
26955893 |
2016 |
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL RECESSIVE, TYPE 2A2B
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
Homozygous mutations in MFN2 cause multiple symmetric lipomatosis associated with neuropathy.
|
26085578 |
2015 |
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL RECESSIVE, TYPE 2A2B
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Homozygous mutations in MFN2 cause multiple symmetric lipomatosis associated with neuropathy.
|
26085578 |
2015 |
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL RECESSIVE, TYPE 2A2B
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Recessive axonal Charcot-Marie-Tooth disease due to compound heterozygous mitofusin 2 mutations.
|
21715711 |
2011 |
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL RECESSIVE, TYPE 2A2B
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
Recessive axonal Charcot-Marie-Tooth disease due to compound heterozygous mitofusin 2 mutations.
|
21715711 |
2011 |
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL RECESSIVE, TYPE 2A2B
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Recessive axonal Charcot-Marie-Tooth disease due to compound heterozygous mitofusin 2 mutations.
|
21715711 |
2011 |
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL RECESSIVE, TYPE 2A2B
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
MFN2 point mutations occur in 3.4% of Charcot-Marie-Tooth families. An investigation of 232 Norwegian CMT families.
|
20350294 |
2010 |
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL RECESSIVE, TYPE 2A2B
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Severe early-onset axonal neuropathy with homozygous and compound heterozygous MFN2 mutations.
|
18458227 |
2008 |
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL RECESSIVE, TYPE 2A2B
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
Severe early-onset axonal neuropathy with homozygous and compound heterozygous MFN2 mutations.
|
18458227 |
2008 |
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL RECESSIVE, TYPE 2A2B
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
Early onset severe and late-onset mild Charcot-Marie-Tooth disease with mitofusin 2 (MFN2) mutations.
|
16835246 |
2006 |
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL RECESSIVE, TYPE 2A2B
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL RECESSIVE, TYPE 2A2B
|
0.700 |
Biomarker
|
disease |
CTD_human |
|
|
|