نتایج جستجو برای: charcot marie
تعداد نتایج: 11416 فیلتر نتایج به سال:
Development, reliability and validity of the Charcot-Marie-Tooth disease Pediatric Scale (CMTPedS) Joshua Burns, Richard Finkel, Tim Estilow, Andy Hiscock, Matilde Laura, Polly Swingle, Agnes Patzko, Allan Glanzman, Gyula Acsadi, Francesco Muntoni, Mary Reilly, Davide Pareyson, Isabella Moroni, Emanuela Pagliano, Sindhu Ramchandren, Kate Eichinger, Monique Ryan, Robert Ouvrier, Michael Shy, Ros...
Background Leg muscle cramps have been identified as the strongest independent predictor of worse quality of life in Australian children with Charcot-Marie-Tooth disease Type 1A (CMT1A). There is no accepted treatment for cramp in children with CMT and the cause of cramp is not well understood. Potential therapeutic targets should be carefully identified to direct clinical trials of interventions.
A family is described in which 16 individuals in 3 generations have Charcot-Marie-Tooth disease. At least 6 family members also have the naevoid basal cell carcinoma syndrome. In addition, 1 subject with both disorders has 2 young daughters with the naevoid basal cell carcinoma syndrome.
Introduction Charcot-Marie-Tooth disease (CMT) is the most common genetic nerve disorder. The most prevalent form, CMT1A, is characterised by demyelinating neuropathy with progressive foot and ankle weakness, contractures and deformity. The wide range of foot/ankle manifestations in CMT1A complicates the assessment, diagnosis and therapy. We aimed to characterise foot and ankle strength, flexib...
Despite co-segregation of two different genetic neurological disorders within a family is rare, clinicians should take into consideration this possibility in patients presenting with unusual complex phenotypes or with unexpected electrophysiological findings. Here, we report a Spanish 11-month-old patient with spinal muscular atrophy type 2 and Charcot-Marie-Tooth 1A.
Skin fibroblasts from patients with familial dysautonomia, Duchenne muscular dystrophy and Charcot-Marie-Tooth disease show normal sensitivity to ionising radiation, as measured by post-irradiation clonal growth. Previous reports of cellular hypersensitivity to ionising radiation and other DNA-damaging agents in familial dysautonomia and Duchenne muscular dystrophy have not been confirmed.
Mutations in mitofusin 2 (MFN2), a dynamin-like GTPase required for mitochondrial fusion, cause the peripheral neuropathy Charcot-Marie-Tooth type 2A. In a recent report in Nature, de Brito and Scorrano (2008) demonstrate a new function of MFN2-tethering the endoplasmic reticulum and mitochondria to control the efficiency of mitochondrial uptake of Ca2+ ions.
We report a case of a 53-year-old female presenting with a new-onset heart failure that was contributed secondary to noncompaction cardiomyopathy. The diagnosis was made by echocardiogram and confirmed by cardiac MRI. Noncompaction cardiomyopathy (also known as ventricular hypertrabeculation) is a newly discovered disease. It is considered to be congenital (genetic) cardiomyopathy. It is usuall...
Charcot-Marie-Tooth disease (CMT) is an inherited neuronal disorder, and is induced by mutations of various genes associated with intracellular membrane traffic and cytoskeleton. A large GTPase, dynamin, which is known as a fission protein for endocytic vesicles, was identified as a gene responsible for dominant-intermediate CMT type 2B (DI-CMT2B). Of these mutants, the PH domain, which is requ...
Charcot-Marie-Tooth (CMT) disease is caused by mutations in several genes expressed in myelinating Schwann cells and the axons they ensheathe. Typical patients present with distally accentuated motor weakness, muscle wasting, and sensory loss leading to significant and progressive clinical morbidity and impaired quality of life. The wealth of recent information regarding genotype-phenotype corr...
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