Results 101 to 110 of about 484,924 (172)

Clinical and genetic evaluation of hereditary myopathies in an adult Saudi cohort

BMC Neurology
Background Diagnosis of hereditary myopathy is often challenging owing to overlapping clinical phenotypes and muscle histopathological findings. This retrospective study aimed to identify the phenotypic and genotypic spectra of hereditary myopathies at a
Reem M. Alhammad, Marwa L. Alrehaili, Hana M. Albulaihe, Sultan S. Aljereish, Mohammed H. Alanazy   +4 more
doaj   +1 more source

Clinical and molecular characterization of patients with limb-girdle muscular dystrophy type 2I

, 2005
Background: Limb-girdle muscular dystrophy type 21 is caused by mutations in the fukutin-related protein gene (FKRP). FKRP encodes a putative glycosyltransferase protein that is involved in a-dystroglycan glycosylation.Objectives: To identify patients ...
GAVASSINI BF, SICILIANO, GABRIELE, BOITO CA, VIANELLO A, MELACINI P, PRANDINI P, ANGELINI C, PEGORARO E., BAGATTIN A   +8 more
core   +1 more source

Sarcospan protects against LGMD R5 via remodeling of the sarcoglycan complex composition in dystrophic mice

The Journal of Clinical Investigation
The dystrophin-glycoprotein complex (DGC) is composed of peripheral and integral membrane proteins at the muscle cell membrane that link the extracellular matrix with the intracellular cytoskeleton.
Ekaterina I. Mokhonova, Daniel Helzer, Ravinder Malik, Hafsa Mamsa, Jackson Walker, Mark Maslanka, Tess S. Fleser, Mohammad H. Afsharinia, Shiheng Liu, Johan Holmberg, Z. Hong Zhou, Eric J. Deeds, Kirk C. Hansen, Elizabeth M. McNally, Rachelle H. Crosbie   +14 more
doaj   +1 more source

Lymphocyte Capping in Limb-Girdle Muscular Dystrophy: Patients and Carriers in an Amish Isolate

, 1982
We observed a decreased proportion of capped lymphocytes using polyvalent immunoglobulin and concanavalin-A as ligands in limb-girdle muscular dystrophy patients, obligate carriers, and individuals who are at-risk for being limb-girdle muscular dystrophy
Townsend, Douglas W, Creason, M, Bader, P, Bender, C, Conn, P   +4 more
core  

Clinical, demographic and genetic features of pediatric limb-girdle muscular dystrophy in the Çukurova region. [PDF]

Ital J Pediatr
Güner Özcanyüz D, GüL Mert G, Özcan N, Bilge S, İncecik F, Zorludemir S, Tuğ Bozdoğan S, Hergüner MÖ.   +7 more
europepmc   +1 more source

Defining Haplosufficiency in Autosomal Recessive Limb-Girdle Muscular Dystrophy Using Molecular Markers in Disease Carriers. [PDF]

Neurol Genet
Gaynor A, Enicks D, Karam K, Turcios-Hernandez L, Provenzano M, Heier CR, Hale MA, Johnson NE.   +7 more
europepmc   +1 more source

Predicting Loss of Ambulation in Limb Girdle Muscular Dystrophy R9. [PDF]

Ann Clin Transl Neurol
Miller CL, Coffey LN, Mockler SRH, Laubscher KM, Stephan CM, Zimmerman MB, Mathews KD.   +6 more
europepmc   +1 more source

Anesthetic Management of a 33-Year-Old Female With Limb-Girdle Muscular Dystrophy Undergoing Laparoscopic Cholecystectomy: A Case Report. [PDF]

Cureus
Gargori N, Alboloshi AA, Nawawi A, Farsi S.   +3 more
europepmc   +1 more source

MyomiRs Expression in Limb Girdle Muscular Dystrophy. [PDF]

IUBMB Life
Breveglieri G, Altieri MT, Rodia MT, Costa R, Frabetti F, Cenacchi G, Sabbioni G, Borgatti M.   +7 more
europepmc   +1 more source

<i>LMNA</i> c.1622G>A mutation and myopathic changes in a family with limb-girdle muscular dystrophy: A case report. [PDF]

Exp Ther Med
Zhu Y, Wang Q, Zhang T.
europepmc   +1 more source