Disease #02591 (CMT-2F (Charcot-Marie-Tooth disease, type 2F (CMT-2F)), OMIM:606595)

Official abbreviation CMT-2F
Name Charcot-Marie-Tooth disease, type 2F (CMT-2F)
OMIM ID 606595
Human Phenotype Ontology Project (HPO) HPO
Inheritance -
Individuals reported having this disease 3
Phenotype entries for this disease 3
Associated with 1 gene HSPB1
Associated tissues -
Disease features -
Remarks -


Individuals

3 entries on 1 page. Showing entries 1 - 3.
Legend   How to query  

AscendingIndividual ID     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Disease     

Phenotype details     

Genes screened

Variants in genes

Variants     

Panel size     

Owner     
00056457 - PubMed: Evgrafov 2004 6-generation family, 18 affecteds (8F, 10M) F;M no Russian Federation - - 0 - - CMT-2F progressive symmetrical weakness, atrophy distal limb muscles initially involving legs particularly peroneal muscles, depressed or absent tendon reflexes, mild/moderate distal sensory abnormalities; age onset 15–25y HSPB1 HSPB1 1 18 Johan den Dunnen
00056458 - PubMed: Evgrafov 2004 - - no Belgium - - 0 - - CMT-2F Charcot-Marie-Tooth disease, axonal, type 2F HSPB1 HSPB1 1 1 Johan den Dunnen
00359003 176829 - - M ? Germany - - 0 - - CMT-2F Myalgias, weakness and CK elevation (up to max 3000 U/L), marked calf hypertrophy, negative family history, EMG: pSA and myopathic, muscular biopsy: necrosis and small inflammatory infiltrates (therapy with cortisone, AZA, MTX unsuccessful), / (+) Myopathy,(+) Myalgia,(+) EMG abnormality,(+) EMG: myopathic abnormalities,(+) Necrotizing myopathy,(+) Abnormal skeletal muscle morphology,(+) Pain HSPB1 HSPB1 1 1 Andreas Laner
Legend   How to query