Mitochondrial DNA haplogroups influence the Friedreich's ataxia phenotype
نویسندگان
چکیده
منابع مشابه
Mitochondrial DNA haplogroups influence the Friedreich's ataxia phenotype.
F riedreich’s ataxia, an autosomal recessive neurodegenerative disorder, is the most common hereditary ataxia among white people. The disease is characterised by gait and limb ataxia, dysarthria, absent tendon reflexes, Babinski’s sign, impairment of position and vibratory senses, scoliosis, and pes cavus. Cardiac manifestations are prominent in some cases. Diabetes mellitus or carbohydrate int...
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Ataxia-Telangiectasia (AT) is a rare human neurodegenerative autosomal recessive multisystem disease that is characterized by a wide range of features including, progressive cerebellar ataxia with onset during infancy, occulocutaneous telangiectasia, susceptibility to neoplasia, occulomotor disturbances, chromosomal instability and growth and developmental abnormalities. Mitochondrial DNA (mtDN...
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The aims of this study were to: (1) evaluate the perceptual speech dimensions, speech intelligibility and dys arthria severity of a group of individuals diagnosed with Friedreich’s ataxia (FRDA); (2) determine the presence of subgroups within FRDA dysarthria; (3) investigate the relationship between the speech outcome and the clinical factors of disease progression. The study included 38 indivi...
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OBJECTIVE To evaluate the influence of the mtDNA haplogroups on knee osteoarthritis progression in Osteoarthritis Initiative (OAI) participants through longitudinal data from radiographs and magnetic resonance imaging (MRI). METHODS Four-year knee osteoarthritis progression was analyzed as increase in Kellgren and Lawrence (KL) grade, in addition to increase in OARSI atlas grade for joint spa...
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ataxia-telangiectasia (at) is a rare human neurodegenerative autosomal recessive multisystem disease characterized by a wide range of features including progressive cerebellar ataxia during infancy, occulocutaneous telangiectasia, susceptibility to neoplasia, occulomotor disturbances, chromosomal instability and growth and developmental abnormalities. mitochondrial dna (mtdna) has the only non-...
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ژورنال
عنوان ژورنال: Journal of Medical Genetics
سال: 2004
ISSN: 1468-6244
DOI: 10.1136/jmg.2003.015289