Français
Albanian
Arabic
Armenian
Azerbaijani
Belarusian
Bengali
Bosnian
Catalan
Czech
Danish
Deutsch
Dutch
English
Estonian
Finnish
Français
Greek
Haitian Creole
Hebrew
Hindi
Hungarian
Icelandic
Indonesian
Irish
Italian
Japanese
Korean
Latvian
Lithuanian
Macedonian
Mongolian
Norwegian
Persian
Polish
Portuguese
Romanian
Russian
Serbian
Slovak
Slovenian
Spanish
Swahili
Swedish
Turkish
Ukrainian
Vietnamese
Български
中文(简体)
中文(繁體)
hereditary sensory and motor neuropathy/arginine
Le lien est enregistré dans le presse-papiers
8 résultats
[A family of hereditary motor and sensory neuropathy type 1B showing a marked difference of neurological disability score among affected family members].
Seuls les utilisateurs enregistrés peuvent traduire des articles
Se connecter S'inscrire
The proband was a 22-year-old man with a complaint of progressive weakness in his lower limbs. His clinical diagnosis of hereditary motor and sensory neuropathy (HMSN) type 1 was made based on the neurological findings and the results of peripheral nerve conduction studies and of histological
De novo mutation of the myelin P0 gene in Dejerine-Sottas disease (hereditary motor and sensory neuropathy type III).
Seuls les utilisateurs enregistrés peuvent traduire des articles
Se connecter S'inscrire
We have investigated the myelin P0 gene on chromosome 1 as a candidate gene in two sporadic cases with Dejerine-Sottas disease or hereditary motor and sensory neuropathy (HMSN) type III. We found different mutations, a cysteine substitution for serine 63 in the extracellular domain and an arginine
Expression of P0 protein in sural nerve of a patient with hereditary motor and sensory neuropathy type III.
Seuls les utilisateurs enregistrés peuvent traduire des articles
Se connecter S'inscrire
We present expression of Po protein and Po mRNA on the sural nerve of a patient with hereditary motor and sensory neuropathy type III. This patient was identified with a point mutation in Po gene, which resulted in the substitution of glycine for arginine in transmembrane domain of P0 protein. An
[A family of hereditary motor and sensory neuropathy type I with a mutation (Arg98-->His) in myelin Po--report on a second Japanese family].
Seuls les utilisateurs enregistrés peuvent traduire des articles
Se connecter S'inscrire
A 46-year-old housewife had complaints of insidiously progressive muscle weakness and paresthesia in the distal lower limbs. On neurological examination, a slight to moderate degree of muscle weakness with slight atrophy was observed in the bilateral intrinsic hand muscles. A severe degree of muscle
[A case of hereditary motor and sensory neuropathy type I with a new type of peripheral myelin protein (PMP)-22 mutation].
Seuls les utilisateurs enregistrés peuvent traduire des articles
Se connecter S'inscrire
A 16-year-old school boy suffered from an insidious foot deformity. Slight degrees of symmetrical muscular weakness of the distal lower limb muscles were observed. In addition, slight degrees of atrophy of the anterior tibial muscles with moderate degrees of pes cavus deformity and flexion
[Clinical, pathologic and molecular genetic studies of patients with hereditary motor and sensory neuropathy (HMSN)].
Seuls les utilisateurs enregistrés peuvent traduire des articles
Se connecter S'inscrire
Clinical, pathologic and molecular genetic studies of Japanese HMSN patients were reported. Among 26 HMSN I probands tested, the PMP22 gene region was duplicated in 18 (69%). A proband of HNPP, whose PMP22 gene region was deleted, was described. A proband with HMSN I was found to have a mutant
New mutation in periaxin gene causing Charcot Marie Tooth disease in a Puerto Rican young male.
Seuls les utilisateurs enregistrés peuvent traduire des articles
Se connecter S'inscrire
Charcot-Marie-Tooth (CMT) disease is an inherited peripheral neuropathy caused by mutations in more than 30 different genes. One of the genes encodes for periaxin (PRX) protein, which is required for the maintenance of peripheral nerve myelin. Individuals with PRX gene mutations have been described
Dominant mutations in the cation channel gene transient receptor potential vanilloid 4 cause an unusual spectrum of neuropathies.
Seuls les utilisateurs enregistrés peuvent traduire des articles
Se connecter S'inscrire
Hereditary neuropathies form a heterogeneous group of disorders for which over 40 causal genes have been identified to date. Recently, dominant mutations in the transient receptor potential vanilloid 4 gene were found to be associated with three distinct neuromuscular phenotypes: hereditary motor
La base de données d'herbes médicinales la plus complète soutenue par la science
- Fonctionne en 55 langues
- Cures à base de plantes soutenues par la science
- Reconnaissance des herbes par image
- Carte GPS interactive - étiquetez les herbes sur place (à venir)
- Lisez les publications scientifiques liées à votre recherche
- Rechercher les herbes médicinales par leurs effets
- Organisez vos intérêts et restez à jour avec les nouvelles recherches, essais cliniques et brevets
Tapez un symptôme ou une maladie et lisez des informations sur les herbes qui pourraient aider, tapez une herbe et voyez les maladies et symptômes contre lesquels elle est utilisée.
* Toutes les informations sont basées sur des recherches scientifiques publiées
