1,721,050 research outputs found
Patologia oculare nelle encefalo-neuro-miopatie genetiche mitocondriali.
No full textPatologia oculare nelle encefalo-neuro-miopatie genetiche mitocondrial
Four novel mutations of sterol-27-hydroxylase gene in Italian patients with cerebrotendinous xanthomatosis.
No full text
Patogenesi biochimica della malattia di Leber
No full textPatogenesi biochimica della malattia di Lebe
Auditory neuropathy in a patient with mitrochondrial myopathy and multiple mtDNA deletions
No full textAuditory neuropathy (AN) is a hearing disorder characterized by the absence or severe distortion of the auditory brainstem responses, in the presence of preserved otoacoustic emissions. This peculiar combination suggests the presence of a defect impinging upon the functional complex formed by inner hair cells, the primary afferents (spiral ganglion neurones) and the first order synapses between hair cells and the cochlear nerve. Typically, AN patients show a severe speech perception impairment, which appears reduced out of proportion to pure tone threshold, but the clinical presentation of AN is quite complex. Hearing loss is a common symptom associated with mitochondrial diseases; however, AN has only rarely been reported in these disorders. Here we report a rare association, the first case observed in Italy, in a patient with autosomal recessive mitochondrial myopathy and mitochondrial DNA multiple deletions, and a hearing deficit with the audiological and electrophysiological features of AN
Quantification of brain damage in cerebrotendinous xanthomatosis with magnetization transfer MR imaging
No full text
Partial deletion of the gene encoding the enzyme sterol 27-hydroxylase in a subject with cerebrotendinous xanthomatosis.
No full text
De novo double translocation 3;13 and 4;8;18 in a patient with mental retardation and skeletal abnormalities.
No full text- …
