Hypothyroidism could be the only manifestation of mitochondrial T8993C mutation in Leigh syndrome
نویسندگان
چکیده
منابع مشابه
Could Only Fermions Be Elementary?
In standard Poincare and anti de Sitter SO(2,3) invariant theories, antiparticles are related to negative energy solutions of covariant equations while independent positive energy unitary irreducible representations (UIRs) of the symmetry group are used for describing both a particle and its antiparticle. Such an approach cannot be applied in de Sitter SO(1,4) invariant theory. We argue that it...
متن کاملHoffmann’s Syndrome a Presenting Manifestation of Hypothyroidism
Hypothrodism is one of the most prevalent endocrine disorders. Different neuromusclualr complications can develop with hypothyrodism. Nonspecific neuromuscular complaints like myelgia, muscle cramps and mild elevation of Creatine Kinase (CK) are the most common myopathic features related to hypothyroidism. Other myopathic features included proximal muscle weakness and myoedema. Rarely hypothyro...
متن کاملNovel mutation in mitochondrial DNA in 2 siblings with Leigh syndrome
Leigh syndrome is clinically and genetically heterogeneous, associated with mutations in mitochondrial and nuclear genes.(1) Diagnostic criteria include progressive disorder with motor and intellectual delay/regression; signs and symptoms of brainstem and/or basal ganglia disease; raised lactate concentration in blood and/or CSF; and one or more of the following: (1) characteristic features on ...
متن کاملAtypical presentation of Leigh syndrome associated with a Leber hereditary optic neuropathy primary mitochondrial DNA mutation.
Leber hereditary optic neuropathy (LHON) is caused by point mutations in mitochondrial DNA (mtDNA), and is characterized by bilateral, painless sub-acute visual loss that develops during the second decade of life. Here we report the case of a five year old girl who presented with clinical and neuroradiological findings reminiscent of Leigh syndrome but carried a mtDNA mutation m.11778G>A (p.R34...
متن کاملAdaptive optics scanning laser ophthalmoscopy images in a family with the mitochondrial DNA T8993C mutation.
PURPOSE This study was designed to assess the effect of mitochondrial DNA (mtDNA) mutation T8993C on cone structure in a family expressing neurogenic muscle weakness, ataxia, and retinitis pigmentosa (NARP) syndrome. METHODS Five family members were studied, using clinical examination, nerve conduction studies, perimetry, optical coherence tomography (OCT) measures of central retinal thicknes...
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ژورنال
عنوان ژورنال: Egyptian Journal of Medical Human Genetics
سال: 2013
ISSN: 1110-8630
DOI: 10.1016/j.ejmhg.2012.10.005