A founder mutation in the GMPPB gene [c.1000G > A (p.Asp334Asn)] causes a mild form of limb-girdle muscular dystrophy/congenital myasthenic syndrome (LGMD/CMS) in South Indian patients

Neurogenetics ◽  
2021 ◽  
Author(s):  
Kiran Polavarapu ◽  
Aradhna Mathur ◽  
Aditi Joshi ◽  
Saraswati Nashi ◽  
Veeramani Preethish-Kumar ◽  
...  
Keyword(s):  
Muscular Dystrophy ◽  
Founder Mutation ◽  
Limb Girdle Muscular Dystrophy ◽  
Congenital Myasthenic Syndrome ◽  
Mild Form ◽  
Indian Patients ◽  
South Indian ◽  
Myasthenic Syndrome

scholarly journals A slowly progressive form of limb‐girdle muscular dystrophy type 2C associated with founder mutation in the SGCG gene in Puerto Rican Hispanics

2015 ◽  
Vol 3 (2) ◽  
pp. 92-98 ◽  
Author(s):  
Samiah A. Al‐Zaidy ◽  
Vinod Malik ◽  
Kelley Kneile ◽  
Xiomara Q. Rosales ◽  
Ana Maria Gomez ◽  
...  
Keyword(s):  
Muscular Dystrophy ◽  
Puerto Rican ◽  
Founder Mutation ◽  
Limb Girdle Muscular Dystrophy ◽  
Progressive Form

scholarly journals A founder mutation in Anoctamin 5 is a major cause of limb girdle muscular dystrophy

Brain ◽  
2010 ◽  
Vol 134 (1) ◽  
pp. 171-182 ◽  
Author(s):  
D. Hicks ◽  
A. Sarkozy ◽  
N. Muelas ◽  
K. Koehler ◽  
A. Huebner ◽  
...  
Keyword(s):  
Muscular Dystrophy ◽  
Founder Mutation ◽  
Limb Girdle Muscular Dystrophy

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 Severe limb girdle muscular dystrophy in Spanish gypsies: further evidence for a founder mutation in the γ-sarcoglycan gene

1998 ◽  
Vol 6 (4) ◽  
pp. 396-399 ◽  
Author(s):  
Adriana Lasa ◽  
Federica Piccolo ◽  
Carles de Diego ◽  
Marc Jeanpierre ◽  
Jaume Colomer ◽  
...  
Keyword(s):  
Muscular Dystrophy ◽  
Founder Mutation ◽  
Limb Girdle Muscular Dystrophy

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.

Congenital myasthenic syndrome: Ten years clinical experience from a quaternary care south-Indian hospital

2020 ◽  
Vol 72 ◽  
pp. 238-243
Author(s):  
Vaibhav Wadwekar ◽  
Sruthi S. Nair ◽  
Vaibhav Tandon ◽  
Abraham Kuruvilla ◽  
Muralidharan Nair
Keyword(s):  
Clinical Experience ◽  
Congenital Myasthenic Syndrome ◽  
South Indian ◽  
Myasthenic Syndrome
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