Congenital extraocular muscular defects
نویسندگان
چکیده
منابع مشابه
Synaptic defects in a Drosophila model of congenital muscular dystrophy.
The congenital muscular dystrophies present in infancy with muscle weakness and are often associated with mental retardation. Many of these inherited disorders share a common etiology: defective O-glycosylation of alpha-dystroglycan, a component of the dystrophin complex. Protein-O-mannosyl transferase 1 (POMT1) is the first enzyme required for the glycosylation of alpha-dystroglycan, and mutat...
متن کاملCongenital total external ophthalmoplegia associated with infantile spinal muscular atrophy. Fine structure of extraocular muscle.
A case of total congenital external ophthalmoplegia associated with infantile spinal muscular atrophy is presented. In the first 29 months of life, ophthalmoplegia has remained complete. Ultrastructure of lateral rectus extraocular muscle indicates a neurogenic process as the basis of the ophthalmoplegia. Light microscopy alone is insufficient to distinguish primary "myopathic" from "neurogenic...
متن کاملSynergistic convergence in congenital extraocular muscle misinnervation.
S ynergistic divergence is a well-established clinical condition in which abduction arises on attempted adduction, leading to simultaneous abduction of both eyes on lateral gaze. Synergistic divergence can occur as an extreme form of Duane syndrome, where most if not all oculomotor nerve branch fibers originally directed to the medial rectus muscle innervate the lateral rectus muscle. Synergist...
متن کاملullrich congenital muscular dystrophy
objective ullrich congenital muscular dystrophy is a rather severe type of congenital muscular dystrophy with early onset features related to motor development. in general it is inherited in autosomal recessive principles, however in the western world mostly seen with de novo dominant mutations in the collagen vi genes. milder form of the condition is the bethlem myopathy. there may be overlap ...
متن کاملcongenital muscular dystrophy : an overview
congenital muscular dystrophy (cmd) is an umbrella term collecting a heterogeneous groups of genetic disorders , mostly with autosomal recessive mode of inheritance , and are characterized by muscle weakness since birth or in early infancy , with a dystrophic pattern on muscle biopsy . these children are usually hypotonic and may have joint contractures . the serum creatine kinase level can be...
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: Eye
سال: 1992
ISSN: 0950-222X,1476-5454
DOI: 10.1038/eye.1992.36