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hereditary sensory and motor neuropathy/arginina
L'enllaç es desa al porta-retalls
8 resultats
[A family of hereditary motor and sensory neuropathy type 1B showing a marked difference of neurological disability score among affected family members].
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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).
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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.
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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].
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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].
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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)].
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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.
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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.
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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
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