Novel mutations in the C-terminal region of GMPPB causing limb-girdle muscular dystrophy overlapping with congenital myasthenic syndrome

2017 ◽  
Vol 27 (6) ◽  
pp. 557-564 ◽  
Author(s):  
Sushan Luo ◽  
Shuang Cai ◽  
Susan Maxwell ◽  
Dongyue Yue ◽  
Wenhua Zhu ◽  
...  
Keyword(s):  
Muscular Dystrophy ◽  
Terminal Region ◽  
Limb Girdle Muscular Dystrophy ◽  
Congenital Myasthenic Syndrome ◽  
Novel Mutations ◽  
Myasthenic Syndrome

P1.16 Novel mutations and loci are associated with limb girdle muscular dystrophy type 2

2010 ◽  
Vol 20 (9-10) ◽  
pp. 604-605
Author(s):  
S.E. Boyden ◽  
M.A.M. Salih ◽  
E.A. Estrella ◽  
A.J. White ◽  
A.R. Duncan ◽  
...  
Keyword(s):  
Muscular Dystrophy ◽  
Limb Girdle Muscular Dystrophy ◽  
Novel Mutations

Ophthalmoplegia

2015 ◽  
Author(s):  
Aziz Shaibani
Keyword(s):  
Family History ◽  
Muscular Dystrophy ◽  
Myasthenia Gravis ◽  
Eye Movement ◽  
Congenital Myasthenic Syndrome ◽  
Oculopharyngeal Muscular Dystrophy ◽  
Detailed Family History ◽  
Myasthenic Syndrome ◽  
The Brain

Ophthalmoplegia is usually chronic and therefore diplopia is not a feature. There is enough time for the brain to suppress one image. It is amazing how much impairment of eye movement has to occur before the patient becomes concerned or considers it as abnormal. Neglected myasthenia gravis may be confused with mitochondrial ophthalmoplegia or oculopharyngeal muscular dystrophy or even congenital myasthenic syndrome. Central cause of ophthalmoplegia should be ruled out first by performing doll’s eye movement. Detailed family history looking in particular for ptosis, ophthalmoplegia, and dysphagia is diagnostically very useful. Non neurological causes of ophthalmoplegia such as severe exophthalmus, and retroorbital pathology should be considered.

scholarly journals Efficient identification of novel mutations in patients with limb girdle muscular dystrophy

Neurogenetics ◽  
2010 ◽  
Vol 11 (4) ◽  
pp. 449-455 ◽  
Author(s):  
Steven E. Boyden ◽  
Mustafa A. Salih ◽  
Anna R. Duncan ◽  
Alexander J. White ◽  
Elicia A. Estrella ◽  
...  
Keyword(s):  
Muscular Dystrophy ◽  
Limb Girdle Muscular Dystrophy ◽  
Novel Mutations

Ophthalmoplegia

2018 ◽  
Author(s):  
Aziz Shaibani
Keyword(s):  
Muscular Dystrophy ◽  
Myasthenia Gravis ◽  
Eye Movement ◽  
Congenital Myasthenic Syndrome ◽  
Oculopharyngeal Muscular Dystrophy ◽  
Laboratory Methods ◽  
Different Types ◽  
Myasthenic Syndrome ◽  
The Brain

Ophthalmoplegia is usually chronic, and therefore diplopia is not a feature. There is enough time for the brain to suppress one image. It is amazing how much of impairment of eye movement has to occur before the patient becomes concerned or considers it as abnormal. Neglected myasthenia gravis (MG) may be confused with mitochondrial ophthalmoplegia or oculopharyngeal muscular dystrophy (OPMD) or even congenital myasthenic syndrome (CMS). Central causes of ophthalmoplegia should be ruled out first by performing doll’s eye movement. A number of cases of different types of ophthalmoplegia are presented, along with clinical and laboratory methods to differentiate them.

scholarly journals Novel mutations in DNAJB6 gene cause a very severe early-onset limb-girdle muscular dystrophy 1D disease

2015 ◽  
Vol 25 (11) ◽  
pp. 835-842 ◽  
Author(s):  
Johanna Palmio ◽  
Per Harald Jonson ◽  
Anni Evilä ◽  
Mari Auranen ◽  
Volker Straub ◽  
...  
Keyword(s):  
Muscular Dystrophy ◽  
Early Onset ◽  
Limb Girdle Muscular Dystrophy ◽  
Novel Mutations
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