Duplications of the critical Rubinstein-Taybi deletion region on chromosome 16p13.3 cause a novel recognisable syndrome [PDF]
, 2010 Background The introduction of molecular karyotyping technologies facilitated the identification of specific genetic disorders associated with imbalances of certain genomic regions.
Bena, F +23 more
core +2 more sources
Homozygous frameshift mutations in FAT1 cause a syndrome characterized by colobomatous-microphthalmia, ptosis, nephropathy and syndactyly [PDF]
Nature Communications, 2019 Najim Lahrouchi +2 more
exaly +2 more sources
Atypical Presentation of Enlarged Vestibular Aqueducts Caused by SLC26A4 Variants
Children, 2022 Enlarged vestibular aqueduct is the most common inner ear malformation in pediatric patients with sensorineural hearing loss. Here, we report a new presentation of enlarged vestibular aqueduct in a Korean family.
Jun Chul Byun +2 more
doaj +1 more source
Co-Occurrence of Myasthenia Gravis and Facioscapulohumeral Muscular Dystrophy: A Case Series and Review of Literature. [PDF]
Eur J NeurolABSTRACT Background Facioscapulohumeral dystrophy (FSHD) and Myasthenia Gravis (MG) are well‐known rare neuromuscular diseases of respectively genetic and acquired origin. Among muscular dystrophies, the co‐occurrence of MG with FSHD is the most common, representing a non‐negligible “double trouble”.
Tammam G +14 more
europepmc +2 more sources
Progression of myopathology in Kearns-Sayre syndrome [PDF]
, 1992 We report on the progression of myopathology by comparing two biopsies from a patient with a Kearns-Sayre-Syndrome. The first biopsy was taken in 1979 and showed 10% ragged-red fibers.
B. Meurers +11 more
core +1 more source
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Background Myasthenia gravis (MG) is an autoimmune disorder characterized by antibody‐mediated complement activation. Efgartigimod, a neonatal Fc receptor (FcRn) antagonist, is approved for treating generalized MG (gMG). However, its modulatory effects on upstream innate and adaptive immune cells remain largely unexplored.
Lei Jin +11 more
wiley +1 more source
Cysticercosis of midbrain presenting with fluctuating ptosis
Annals of Indian Academy of Neurology, 2011 Fluctuating ptosis is usually caused by Myasthenia gravis. There are a few case reports of central causes of fluctuating ptosis. A 58-year-old man presented with fluctuating ptosis of one year duration.
M Netravathi +3 more
doaj +1 more source
Comparative study between local and general anesthesia in the management of sever blepharoptosis by use of straight needle threading technique as frontalis suspension [PDF]
The Medical Journal of Basrah University, 2017 Aim: is to compare between the outcome and complications in the use of local and general anesthesia in the management of sever blepharoptosis by use of straight needle threading technique and silk suture as a frontalis suspension.
Amer S. Al Mansory
doaj +1 more source
Marcus Gunn Jaw Winking Phenomenon - A case of the widening eye [PDF]
, 2009 Marcus Gunn jaw winking phenomenon is a congenital synkinetic movement due to synkinesis between the upper eyelid and the pterygoids and it accounts for 8% of patients with congenital ptosis. In rare instances, ptosis may be absent.
Bhat, KG, Karanth, A
core +1 more source
The Case of a 28‐Year‐Old Man With Gradually Progressive Proximal Leg Weakness
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT This is a case of a 28‐year‐old man who presented with a 6‐month history of gradually progressive proximal leg weakness and pain that worsened on exercise and was relieved by rest. He had no symptoms in his upper limbs. Apart from intermittent mild ptosis and diplopia, he had no other cranial nerve symptoms.
Melody T. Asukile +3 more
wiley +1 more source