Ersan Kalay

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Many proteins necessary for sound transduction have been identified through positional cloning of genes that cause deafness. We report here that mutations of LRTOMT are associated with profound nonsyndromic hearing loss at the DFNB63 locus on human chromosome 11q13.3-q13.4. LRTOMT has two alternative reading frames and encodes two different proteins,(More)
Mutations in the connexin 26 gene (GJB2) cause a significant proportion of prelingual non-syndromic autosomal recessive deafness in all populations studied so far. To determine the percentage of hearing loss attributed to GJB2 in northeast Turkey, 93 unrelated patients with autosomal recessive non-syndromic hearing loss (ARNSHL) were screened. Seven(More)
In the present work, we describe a large Turkish family (N=39) with Charcot-Marie-Tooth disease, which is the most commonly inherited peripheral neuropathy. The subjects were from four generations, including six hemizygote patients and nine heterozygote carrier females. Symptoms appeared in late childhood in males (mean age=13.5) but later in carrier(More)
We describe a 34-year-old patient who was admitted with episodic diplopia, ptosis, and swallowing difficulties of 6 months duration. He also had some muscle cramps aggravated by exercise since the age of 20. Bilateral ptosis of the eyelids, normal gaze, rare fasciculations of the tongue, easy fatigability of ocular and bilateral proximal limb muscles,(More)
We report on a case of genetically proven X-linked spinal and bulbar muscular atrophy (X-SBMA) with prominent distal muscle atrophy and without proximal muscle involvement. The patient was a 35-year-old man who had a history of slow progressive hand and distal leg muscle weakness and wasting for 10 years. Motor nerve conduction velocities were normal with(More)
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