Expanding the clinical phenotypes of MT-ATP6 mutations
نویسندگان
چکیده
منابع مشابه
Expanding the clinical phenotypes of MT-ATP6 mutations.
Mitochondrial DNA mutations at MT-ATP6 gene are relatively common in individuals suffering from striatal necrosis syndromes. These patients usually do not show apparent histochemical and/or biochemical signs of oxidative phosphorylation dysfunction. Because of this, MT-ATP6 is not typically analyzed in many other mitochondrial disorders that have not been previously associated to mutations in t...
متن کاملClinical phenotypes of MAGEL2 mutations and deletions
Letter to the Editor Although it has long been known that Prader-Willi syndrome (PWS) is caused by the loss of function of imprinted, paternally expressed genes in 15q11q13, the contribution of the different genes within this region has not yet been completely resolved. Based on the identification of rare deletions affecting only the snoRNA gene cluster SNORD116 it has been suggested that this ...
متن کاملVoltage-gated potassium channelopathy: an expanding spectrum of clinical phenotypes.
Autoimmune voltage-gated potassium channelopathies represent a wide and expanding spectrum of neurological conditions. We present a case demonstrating the phenotypic heterogeneity of antivoltage-gated potassium channels (VGKC)-associated disorders. Such cases may easily be dismissed as functional disorders at first presentation. We propose that there must remain a high index of suspicion for an...
متن کاملMutations in TTC19: expanding the molecular, clinical and biochemical phenotype
BACKGROUND TTC19 deficiency is a progressive neurodegenerative disease associated with isolated mitochondrial respiratory chain (MRC) complex III deficiency and loss-of-function mutations in the TT19 gene in the few patients reported so far. METHODS We performed exome sequencing and selective mutational analysis of TTC19, respectively, in patients from three unrelated families presenting with...
متن کاملARC syndrome: an expanding range of phenotypes
Aim—To describe the clinical phenotype in infants with ARC syndrome, the association of arthrogryposis, renal tubular acidosis, and cholestasis. Methods—The medical records for six patients with ARC syndrome were reviewed, presenting over 10 years to three paediatric referral centres. Results—All patients had the typical pattern of arthrogryposis. Renal Fanconi syndrome was present in all but 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: Human Molecular Genetics
سال: 2014
ISSN: 0964-6906,1460-2083
DOI: 10.1093/hmg/ddu339