Characterization of a rare Unverricht–Lundborg disease mutation
نویسندگان
چکیده
منابع مشابه
Characterization of a rare Unverricht-Lundborg disease mutation.
Cystatin B (CSTB) gene mutations cause Unverricht-Lundborg disease (ULD), a rare form of myoclonic epilepsy. The previous identification of a Portuguese patient, homozygous for a unique splicing defect (c.66G > A; p.Q22Q), provided awareness regarding the existence of variant forms of ULD. In this work we aimed at the characterization of this mutation at the population level and at the cellular...
متن کاملA Rare Tonsillar Disease
A 16 year old women with Tangier disease in palatine tonsils is reported. She has recurrent sore throat. In physical examination the palatine tonsils are hypertrophied and has very yellowish points. The facial skin is yellowish the skin of another areas of body is normal. After tonsillectomy the pathologist report Tangier disease in palatine tonsils.
متن کاملEpiploic Appendagitis: A Rare Disease with a Common Symptom
Epiploic appendagitis is one of the self-limiting rare causes of acute abdominal pain that is caused by torsion or accidental necrosis of one of the epiploic appendix of the colon. Due to the absence of specific clinical findings for this disease, it is usually diagnosed by chance in examinations for the cause. The use of radiologic methods in diagnosis is very helpful. The importance of the to...
متن کاملA Classic Case of Maple Syrup Urine Disease and a Novel Mutation in the BCKDHA Gene
Background: Maple syrup urine disease (MSUD) is an inherited branched-chain amino acid metabolic disorder caused by the deficiency in the branched-chain alpha-keto acid dehydrogenase (BCKD) complex. In MSUD, elevation of the branched-chain amino acids, such as alpha-keto acid and alpha-hydroxy acid, occurs due to the BCKDC gene deficiency, appearing in the blood, urine, and cerebrospinal fluid,...
متن کاملIdentification of a Rare Synonymous Beta Globin Mutation, HBB:c.180G>A codon 59 (G>A) in an Iranian Patient
Beta thalassemia is the most common autosomal recessive disorder. The present study reports a rare β globin gene mutation, HBB: c.180G>A: codon 59 (AAG/AAA), in a patient from Gilan province, northern Iran. Nucleotide sequencing of amplified DNA belonging to a 35 years old man presenting mild hypochromia revealed a synonymous mutation due to a G>A conversion at the third position of codon 59 o...
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: Molecular Genetics and Metabolism Reports
سال: 2015
ISSN: 2214-4269
DOI: 10.1016/j.ymgmr.2015.07.005