Severe X-Linked Mitochondrial Encephalomyopathy Associated with a Mutation in Apoptosis-Inducing Factor
نویسندگان
چکیده
منابع مشابه
Fatal infantile mitochondrial encephalomyopathy, hypertrophic cardiomyopathy and optic atrophy associated with a homozygous OPA1 mutation
BACKGROUND Infantile-onset encephalopathy and hypertrophic cardiomyopathy caused by mitochondrial oxidative phosphorylation defects are genetically heterogeneous with defects involving both the mitochondrial and nuclear genomes. OBJECTIVE To identify the causative genetic defect in two sisters presenting with lethal infantile encephalopathy, hypertrophic cardiomyopathy and optic atrophy. ME...
متن کاملFASTKD2 nonsense mutation in an infantile mitochondrial encephalomyopathy associated with cytochrome c oxidase deficiency.
In two siblings we found a mitochondrial encephalomyopathy, characterized by developmental delay, hemiplegia, convulsions, asymmetrical brain atrophy, and low cytochrome c oxidase (COX) activity in skeletal muscle. The disease locus was identified on chromosome 2 by homozygosity mapping; candidate genes were prioritized for their known or predicted mitochondrial localization and then sequenced ...
متن کاملRecurrent Venous Thromboembolic Events in a Child with Severe Factor X Deficiency
Congenital factor X deficiency is a rare autosomal recessive bleeding disorder that presents with variable bleeding tendency and prolonged coagulation tests, prothrombin time, and partial thromboplastin time. Thromboembolic events have not been reported in patients with factor X deficiency yet. Herein, we report a patient with factor X deficiency who had recurrent venous thromboembolic events.
متن کاملMutations in apoptosis-inducing factor cause X-linked recessive auditory neuropathy spectrum disorder
BACKGROUND Auditory neuropathy spectrum disorder (ANSD) is a form of hearing loss in which auditory signal transmission from the inner ear to the auditory nerve and brain stem is distorted, giving rise to speech perception difficulties beyond that expected for the observed degree of hearing loss. For many cases of ANSD, the underlying molecular pathology and the site of lesion remain unclear. T...
متن کاملneutropenia associated with x-linked agammaglobulinemia
x-linked agammaglobulinemia (xla) is a hereditary immunodeficiency, characterized by an early onset of recurrent bacterial infections, hypogammaglobulinemia and markedly reduced b lymphocytes number. in order to determine the association of neutropenia among iranian patients with xla, hospital records of 30 patients with confirmed xla in children medical center hospital, were reviewed. eight ou...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: The American Journal of Human Genetics
سال: 2010
ISSN: 0002-9297
DOI: 10.1016/j.ajhg.2010.03.002