Protein Turnover and Cellular Stress in Mildly and Severely Affected Muscles from Patients with Limb Girdle Muscular Dystrophy Type 2I

G.P.42 Protein turnover and cellular stress in mildly and severely affected muscles from patients with limb girdle muscular dystrophy type 2I

Neuromuscular Disorders ◽

10.1016/j.nmd.2012.06.101 ◽

2012 ◽

Vol 22 (9-10) ◽

pp. 832

Author(s):

T.O. Krag ◽

S. Hauerslev ◽

M.L. Sveen ◽

J. Vissing

Keyword(s):

Muscular Dystrophy ◽

Protein Turnover ◽

Cellular Stress ◽

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 ◽

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 ◽

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 ◽

Amino Acid ◽

Muscular Dystrophy ◽

Trna Synthetase ◽

Wild Type ◽

Orphan Designation ◽

Acid Protein ◽

Amino Acid Protein

Limb-Girdle Muscular Dystrophy Type 2I in Norway

Case Medical Research ◽

10.31525/ct1-nct03930628 ◽

2019 ◽

Author(s):

Keyword(s):

Muscular Dystrophy ◽

Defining Clinical Endpoints in Limb Girdle Muscular Dystrophy (LGMD)

Case Medical Research ◽

10.31525/ct1-nct03981289 ◽

2019 ◽

Author(s):

Keyword(s):

Muscular Dystrophy ◽

Clinical Endpoints

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 ◽

Congenital Myasthenic Syndrome ◽

Mild Form ◽

Indian Patients ◽

South Indian ◽

Myasthenic Syndrome

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 ◽

Cited By ~ 13

Author(s):

Loizos Antoniades ◽

Christos Eftychiou ◽

Theodoros Kyriakides ◽

Kyproula Christodoulou ◽

Demosthenes G. Katritsis

Keyword(s):

Muscular Dystrophy ◽

Sudden Death ◽

Conduction System ◽

Lamin A ◽

Mild Form ◽

System Disease ◽

Conduction System Disease

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 ◽

Cited By ~ 5

Author(s):

Samiah A. Al‐Zaidy ◽

Vinod Malik ◽

Kelley Kneile ◽

Xiomara Q. Rosales ◽

Ana Maria Gomez ◽

...

Keyword(s):

Muscular Dystrophy ◽

Puerto Rican ◽

Founder Mutation ◽

Progressive Form

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 ◽

Cited By ~ 102

Author(s):

S. Baghdiguian ◽

M. Martin ◽

I. Richard ◽

F. Pons ◽

C. Astier ◽

...

Keyword(s):

Muscular Dystrophy ◽

Calpain 3