Results 71 to 80 of about 257,574 (163)
Molecular Genetics &Genomic Medicine, Volume 14, Issue 9, September 2026.Targeted next‐generation sequencing of South African patients with suspected Treacher Collins syndrome identified pathogenic variants in six cases, including multiple novel TCOF1 and POLR1D variants. These findings expand the African mutational spectrum and support panel‐based testing to improve diagnosis and genetic counselling in resource‐limited ...
Patracia Nevondwe +6 more
wiley +1 more source
Review of Congenital Myasthenic Syndrome Caused by Pathogenic Variants in GFPT1
Muscle &Nerve, Volume 74, Issue S1, Page S58-S64, September 2026.ABSTRACT Glutamine:fructose‐6‐phosphate transaminase 1 (GFPT1) catalyzes the first and rate‐limiting step of the hexosamine biosynthetic pathway (HBP) to generate UDP‐GlcNAc. GFPT1 exon 9 is specifically spliced in in striated muscles, which makes a long isoform of GFPT1 (GFPT1‐L).
Kinji Ohno +5 more
wiley +1 more source
Muscle &Nerve, Volume 74, Issue S1, Page S31-S40, September 2026.ABSTRACT Congenital myasthenic syndromes (CMS) are inherited disorders caused by mutations in genes encoding proteins essential for neuromuscular junction (NMJ) function. Pathogenic variants have been identified in more than 35 genes, underscoring the complexity of synaptic biology and the wide range of mechanisms that can compromise neuromuscular ...
Rocio‐Nur Villar‐Quiles +5 more
wiley +1 more source
Progressively worsening ptosis in a woman: A case report
Clinical Case ReportsKey Clinical Message Filler injections into the upper eyelid may cause levator aponeurosis fibrosis and ptosis. This risk must be considered. When ptosis appears, treatment might be difficult.
Hongqing Zhao +4 more
doaj +1 more source
Presynaptic Congenital Myasthenic Syndromes
Muscle &Nerve, Volume 74, Issue S1, Page S41-S51, September 2026.ABSTRACT Presynaptic congenital myasthenic syndromes (CMS) encompass a large number of rare neurologic disorders caused by impaired release of acetylcholine (ACh) from motor nerve terminals. There are two main groups of presynaptic CMS: one in which the amount of ACh in synaptic vesicles (SV) is diminished and another in which the mechanism of synaptic
Ricardo A. Maselli
wiley +1 more source
The role of the orthoptist in the diagnosis of congenital ptosis
, 2021 Ziel- und Problemstellung: Diese Arbeit beschäftigt sich mit der Rolle der*des Orthoptist*in in der Diagnostik der kongenitalen Ptosis. Es werden orthoptische Untersuchungsmethoden aufgezeigt, die für die exakte Diagnosestellung sowie das Ableiten ...
Doleschal, Selina
core +2 more sources
Familial coexistence of the association: Fabry's syndrome and congenital ptosis
, 1991 The authors undertook a clinical and genetic study in a large family with the aim of identifying the mode of inheritance of Fabry syndrome and congenital ptosis. These two types of pathology were present to varying extents.
Kitsos, G. +4 more
core
Congenital ptosis with associated ocular and systemic anomalies and its management: A study [PDF]
, 2009 INTRODUCTION: Ptosis (Blepharoptosis) denotes drooping of the upper eyelid. True congenital ptosis includes developmental dystrophy of levator muscle of unknown cause.
Thenmozhi, R
core
Muscle &Nerve, Volume 74, Issue S1, Page S52-S57, September 2026.ABSTRACT The congenital myasthenic syndromes are rare disorders of impaired signal transmission at the neuromuscular junction. Despite next generation sequencing facilitating the identification of variants in myasthenic‐associated genes, these variants are frequently of unknown significance and the clinical diagnosis can be delayed.
David Beeson
wiley +1 more source
American Journal of Ophthalmology Case Reports, 2018 Purpose: Upper eyelid ptosis has different etiologies in children and adults. In children, the common causes include orbital cellulitis, congenital ptosis, Cranial Nerve (CN) III palsy, and Horner's syndrome.
Nathan D. Wilbanks +3 more
doaj +1 more source