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Prevalence (%) of clinical parameters based on data from 2 references describing 36 individuals
Add new symptom/sign to this disease
| Pubmed id number as a reference | Organ system affected | ||
| Number of patients in the reference | Percent affected patients (Between 0 and 1, eg. 0.1 = 10%) | ||
| Please provide your name and contact information as a reference | |||
| Name | Institute | Phone number | Email address |
List of symptoms
| Symptom/sign | Organ system | Percent affected | Pubmed id | Added on(yyyy-mm-dd) | Edit/add reference |
| Muscle weakness | nervous | 100 % | 11148244 | 2013-12-11 | |
| Areflexia | nervous | 100 % | 11148244 | 2013-12-11 | |
| Pes cavus | skeletal | 100 % | 11148244 | 2013-12-11 | |
| Hearing loss | nervous | 32 % | 20008656 | 2013-12-11 | |
| Pyramidal signs | nervous | 24 % | 20008656 | 2013-12-11 | |
| Optic atrophy | nervous | 20 % | 20008656 | 2013-12-11 | |
| Kyphosis | skeletal | 12 % | 20008656 | 2013-12-11 | |
| Lipodystrophy | integumentary | 12 % | 20008656 | 2013-12-11 | |
| Cognitive deficits | nervous | 12 % | 20008656 | 2013-12-11 |
List of references:
Clinical and genetic study of a large Charcot-Marie-Tooth type 2A family from southern Italy.
M Muglia, M Zappia, V Timmerman, P Valentino, A L Gabriele, F L Conforti, P De Jonghe, M Ragno, R Mazzei, M Sabatelli, G Nicoletti, A M Patitucci, R L Oliveri, F Bono, A Gambardella, A Quattrone,
Neurology - Jan 2001
Genotype-phenotype correlations in Charcot-Marie-Tooth disease type 2 caused by mitofusin 2 mutations.
Judith Calvo, Benoît Funalot, Robert A Ouvrier, Leila Lazaro, Annick Toutain, Philippe De Mas, Pierre Bouche, Brigitte Gilbert-Dussardier, Marie-Christine Arne-Bes, Jean-Pierre Carrière, Hubert Journel, Marie-Christine Minot-Myhie, Claire Guillou, Karima Ghorab, Laurent Magy, Franck Sturtz, Jean-Michel Vallat, Corinne Magdelaine,
Archives of neurology - Dec 2009