Limb-Girdle Muscular Dystrophy Type 1F

Genetic Neuromuscular Disorders ◽

10.1007/978-3-319-07500-6_8 ◽

2014 ◽

pp. 35-38

Author(s):

Corrado Angelini

Keyword(s):

Muscular Dystrophy ◽

Limb Girdle Muscular Dystrophy

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Correlation between morphological and electro-physiological features in limb-girdle muscular dystrophy

Electroencephalography and Clinical Neurophysiology ◽

10.1016/s0013-4694(97)88200-8 ◽

1997 ◽

Vol 103 (1) ◽

pp. 65

Author(s):

S Groppa

Keyword(s):

Muscular Dystrophy ◽

Limb Girdle Muscular Dystrophy

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Investigating The Regulation And Role Of P38 Mapk In Collagen-Related Limb Girdle Muscular Dystrophy

10.30707/etd2020.1606247535.293019ap ◽

2020 ◽

Author(s):

Briseida Oceguera-Perez

Keyword(s):

Muscular Dystrophy ◽

P38 Mapk ◽

Limb Girdle Muscular Dystrophy

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Orphan designation: 505 amino acid protein, corresponding to amino acids 2-506 of the wild-type human histidyl-tRNA synthetase, Treatment of limb-girdle muscular dystrophy

Case Medical Research ◽

10.31525/cmr-2935ce2 ◽

2020 ◽

Author(s):

Keyword(s):

Amino Acids ◽

Muscular Dystrophy ◽

Trna Synthetase ◽

Limb Girdle Muscular Dystrophy ◽

Wild Type ◽

Orphan Designation ◽

Acid Protein ◽

Amino Acid Protein

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Limb-Girdle Muscular Dystrophy Type 2I in Norway

Case Medical Research ◽

10.31525/ct1-nct03930628 ◽

2019 ◽

Author(s):

Keyword(s):

Muscular Dystrophy ◽

Limb Girdle Muscular Dystrophy

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Defining Clinical Endpoints in Limb Girdle Muscular Dystrophy (LGMD)

Case Medical Research ◽

10.31525/ct1-nct03981289 ◽

2019 ◽

Author(s):

Keyword(s):

Muscular Dystrophy ◽

Limb Girdle Muscular Dystrophy ◽

Clinical Endpoints

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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 ◽

10.1007/s10048-021-00658-1 ◽

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

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Malignant mutation in the lamin A/C gene causing progressive conduction system disease and early sudden death in a family with mild form of limb-girdle muscular dystrophy

Journal of Interventional Cardiac Electrophysiology ◽

10.1007/s10840-007-9133-x ◽

2007 ◽

Vol 19 (1) ◽

pp. 1-7 ◽

Author(s):

Loizos Antoniades ◽

Christos Eftychiou ◽

Theodoros Kyriakides ◽

Kyproula Christodoulou ◽

Demosthenes G. Katritsis

Keyword(s):

Muscular Dystrophy ◽

Sudden Death ◽

Conduction System ◽

Limb Girdle Muscular Dystrophy ◽

Lamin A ◽

Mild Form ◽

System Disease ◽

Conduction System Disease

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

Molecular Genetics & Genomic Medicine ◽

10.1002/mgg3.125 ◽

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

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Calpain 3 deficiency is associated with myonuclear apoptosis and profound perturbation of the IkBa/NF-kB pathway in limb-girdle muscular dystrophy type 2A

Nature Medicine ◽

10.1038/10579 ◽

1999 ◽

Vol 5 (7) ◽

pp. 849-849 ◽

Author(s):

S. Baghdiguian ◽

M. Martin ◽

I. Richard ◽

F. Pons ◽

C. Astier ◽

...

Keyword(s):

Muscular Dystrophy ◽

Limb Girdle Muscular Dystrophy ◽

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Assistive Robotic Exoskeleton for Helping Limb Girdle Muscular Dystrophy

2013 International Conference on Mechatronics, Electronics and Automotive Engineering ◽

10.1109/icmeae.2013.9 ◽

2013 ◽

Author(s):

Salomon de Jesus Castro Molina ◽

Esther Lugo ◽

Pedro Ponce Cruz ◽

Artuto Molina

Keyword(s):

Muscular Dystrophy ◽

Limb Girdle Muscular Dystrophy ◽

Robotic Exoskeleton ◽

Assistive Robotic

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