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Limb Girdle Muscular Dystrophies

Neurologic Clinics, 2020
The limb girdle muscular dystrophies (LGMDs) are genetic muscle diseases with primary skeletal muscle involvement in persons with the ability to walk independently at some point in the disease course. They usually have increased creatine kinase levels along with patterns of fatty and fibrous deposition on muscle imaging and/or dystrophic features on ...
Jacob, Bockhorst, Matthew, Wicklund
  +20 more sources

Limb-Girdle Muscular Dystrophy

Pediatric Neurology Briefs, 2001
Sixty-one members of a large Spanish kindred with autosomal dominant limb-girdle muscular dystrophy (LGMD), spanning 5 generations, were examined at the Hospital Vail d’Hebron, Barcelona and other centers.
J Gordon Millichap
doaj   +2 more sources

Limb-Girdle Muscular Dystrophies

Pediatric Neurology Briefs, 2003
The phenotype in limb-girdle muscular dystrophy (LGMD) type 21 was defined by mutation analysis, protein studies, and respiratory and cardiac involvement studied in 16 patients from 14 families with fukutin-related protein (FKRP) gene mutations and LGMD,
J Gordon Millichap
doaj   +3 more sources

Limb-Girdle Muscular Dystrophy [PDF]

, 2020
National Cancer Institute
  +5 more sources

High‐Density Lipoprotein‐Associated Cholesterol Abnormalities in a Clinical Outcomes Study of Dysferlin‐Deficient Limb–Girdle Muscular Dystrophy Type R2 [PDF]

Journal of Cachexia
White Z, Rufibach L, Dressman H, Hilsden H, Cox D, Spuler S, Day J, Jones K, Bharucha‐Goebel D, Salort‐Campana E, Pestronk A, Walter M, Paradas C, Stojkovic T, Mori‐Yoshimura M, Bravver E, Diaz‐Manera J, Pegoraro E, Mendell J, Straub V, Bernatchez P.   +20 more
europepmc   +3 more sources

Water T2 could predict functional decline in patients with dysferlinopathy

Journal of Cachexia, Sarcopenia and Muscle, 2022
Background Water T2 (T2H2O) mapping is increasingly being used in muscular dystrophies to assess active muscle damage. It has been suggested as a surrogate outcome measure for clinical trials.
Ursula Moore, Ericky Caldas de Almeida Araújo, Harmen Reyngoudt, Heather Gordish‐Dressman, Fiona E. Smith, Ian Wilson, Meredith James, Anna Mayhew, Laura Rufibach, John W. Day, Kristi J. Jones, Diana X. Bharucha‐Goebel, Emmanuelle Salort‐Campana, Alan Pestronk, Maggie C. Walter, Carmen Paradas, Tanya Stojkovic, Madoka Mori‐Yoshimura, Elena Bravver, Elena Pegoraro, Jerry R. Mendell, The Jain COS Consortium, Kate Bushby, Andrew M. Blamire, Volker Straub, Pierre G. Carlier, Jordi Diaz‐Manera   +26 more
doaj   +1 more source

A novel form of recessive limb girdle muscular dystrophy with mental retardation and abnormal expression of alpha-dystroglycan [PDF]

, 2003
Cataloged from PDF version of article.The limb girdle muscular dystrophies are a heterogeneous group of conditions characterized by proximal muscle weakness and disease onset ranging from infancy to adulthood.
Atalay, R. C., Balci, B., Brockington, M., Dincel, D., Dincer, P., Gerceker, F. O., Haliloglu, G., Kale, G., Longman, C., Muntoni, F., Sue, B. B., Talim, B., Topaloglu, H., Torelli, S., Y. Yuva, Yakicier, C.   +15 more
core   +1 more source

Crystal structures of the human Dysferlin inner DysF domain [PDF]

, 2014
Background: Mutations in dysferlin, the first protein linked with the cell membrane repair mechanism, causes a group of muscular dystrophies called dysferlinopathies.
Cole, Ambrose R., Keep, Nicholas H., Orengo, C., Sula, Altin, Yeats, C.   +4 more
core   +1 more source

Common recessive limb girdle muscular dystrophies differential diagnosis: why and how?

Arquivos de Neuro-Psiquiatria, 2014
Limb girdle muscular dystrophies are heterogeneous autosomal hereditary neuromuscular disorders. They produce dystrophic changes on muscle biopsy and they are associated with mutations in several genes involved in muscular structure and function ...
Ana Cotta, Elmano Carvalho, Antonio Lopes da-Cunha-Júnior, Júlia Filardi Paim, Monica M. Navarro, Jaquelin Valicek, Miriam Melo Menezes, Simone Vilela Nunes, Rafael Xavier Neto, Reinaldo Issao Takata, Antonio Pedro Vargas   +10 more
doaj   +1 more source

Muscular involvement and tendon contracture in limb-girdle muscular dystrophy 2Y: a mild adult phenotype and literature review

BMC Musculoskeletal Disorders, 2020
Background Limb girdle muscular dystrophy type 2Y (LGMD2Y) is a rare subgroup of limb girdle muscular dystrophy featuring limb-girdle weakness, tendon contracture and cardiac involvement.
Xuelin Feng, Jinlang Wu, Wenbiao Xian, Bing Liao, Songjie Liao, Xiaoli Yao, Weixi Zhang   +6 more
doaj   +1 more source