Rare POMC Mutation in a Patient With Myotonic Dystrophy Type 1 and Adrenocorticotropin Hyperresponse to Corticotropin-Releasing Hormone
نویسندگان
چکیده
منابع مشابه
Myotonic Dystrophy Type 1 with Syringomyelia in a Young Patient
Myotonic dystrophy type 1 (DM1) is the most common disease causing muscle weakness and atrophy in adults. The prevalence of DM1 in China is not clear. DM1 is an autosomal dominant genetic disorder associated with the cytosine‑thymine‑guanine (CTG) repeat expansion in 3'untranslated region in dystrophia myotonica‑protein kinase (DMPK) gene on chromosome 19q13.3. In DM1, CTG pathological repeat n...
متن کاملMyotonic dystrophy type 1
Myotonic dystrophy type 1 (DM1) is a distal myopathy and a multisystem disease occurring with an incidence of 1/8000, as a result of a CTG trinucleotide repeat expansion in the serinetreonine-protein kinase (DMPK) coding gene on chromosome 19q13.3. In DM1 patients the length of the CTG expansion ranges from 50 to 4000. Disease severity correlates with repeat length and the phenomenon of genetic...
متن کاملGenotype–Phenotype Correlations in Iranian Myotonic Dystrophy Type I Patients
Objectives: Myotonic Dystrophy type I (DM1) is a dominantly inherited disorder with a multisystemic pattern affecting skeletal muscle, heart, eye, endocrine and central nervous system. DM1 is associated with the expansion and instability of CTG repeat in the 3chr('39') untranslated region of the myotonic dystrophy protein kinase (DMPK) gene located on chromosome 19q13.3. The aim of this study w...
متن کاملIn situ expression of corticotropin-releasing hormone (CRH) and proopiomelanocortin (POMC) genes in human skin.
Systemic stresses induce corticotropin-releasing hormone (CRH) expression in hypothalamus. CRH is released to the pituitary gland, where it stimulates proopiomelanocortin (POMC) production acting via the CRH receptor (CRH-R). CRH and POMC peptides are also detected in sites outside of the central nervous system (CNS), such as the skin. However, it has not been elucidated whether these peptides ...
متن کاملLateral Hypothalamus Corticotropin Releasing Hormone Receptor-1 Inhibition Modulates Stress- Induced Anxiety Behavior
Stress is a reaction to unwanted events disturbing body homeostasis which influences its pathways and target areas. Stress affects the brain through the lateral hypothalamic area (LHA) orexinergic system that mediates the effect of corticotropin-releasing hormone (CRH) through CRH receptor type 1 (CRHr1). Therefore, this study explores the outcome of stress exposure on anxiety development and t...
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ژورنال
عنوان ژورنال: AACE Clinical Case Reports
سال: 2019
ISSN: 2376-0605
DOI: 10.4158/accr-2018-0382