Results 91 to 100 of about 7,259,281 (171)

Autosomal Recessive Forms of Limb-Girdle Muscular Dystrophy [PDF]

, 1998
Limb-girdle muscular dystrophy is a rarely occurring disease not recognized in the past as a distinct entity. Prior to the advent of sophisticated molecular biology techniques in the early I 990s, precise diagnosis of the disease was impossible. However,
Catlett, David N
core  

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

Cardiac and respiratory failure in limb-girdle muscular dystrophy 2I.

, 2004
Mutations in the gene encoding fukutin-related protein cause limb-girdle muscular dystrophy 2I. In this multicenter retrospective analysis of 38 patients, 55.3% had cardiac abnormalities, of which 24% had developed cardiac failure.
Voit, T, Hilton-Jones, David, Eagle, M, Straub, V, Hilton-Jones, D, Bourke, J, Frosk, P, Muntoni, F, Wrogemann, K, Shirodaria, C, Bushby, K, Poppe, M, Greenberg, C   +12 more
core   +1 more source

Secondary reduction in calpain 3 expression in patients with limb girdle muscular dystrophy type 2B and Miyoshi myopathy (primary dysferlinopathies)

, 2011
Dysferlin is the protein product of the gene (DYSF) that is defective in patients with limb girdle muscular dystrophy type 2B and Miyoshi myopathy.
Shaw, Pamela J., Greenberg, Cheryl R., Pyle, Ângela, Goebel, Hans H., Pollitt, Christine, Davison, Keith, Beckmann, Jacques S., Keers, Sharon, Bashir, Rumaisa, Pogue, Robert, Vafiadaki, Elizabeth, Moss, Jennifer A., Bertorini, Túlio, Mahjneh, Ibrahim, Anderson, Louise V.B., Argov, Zohar, Wrogemann, Klaus, Harrison, Ruth M., Bushby, Kate M.D.   +18 more
core  

DNA-Mediated Gene Therapy in a Mouse Model of Limb Girdle Muscular Dystrophy 2B

, 2017
Mutations in the gene for dysferlin cause a degenerative disorder of skeletal muscle known as limb girdle muscular dystrophy 2B. To achieve gene delivery of plasmids encoding dysferlin to hind limb muscles of dysferlin knockout mice, we used a vascular ...
Julia Ma, Mital Bhakta, Haley du Bois, Christophe Pichavant, Michele P. Calos   +4 more
core   +1 more source

ePoster

European Journal of Neurology, Volume 33, Issue S1, June 2026.
wiley   +1 more source

Limb girdle muscular dystrophy: reappraisal of a rejected entity

, 1994
The term limb girdle muscular dystrophy (LGMD) has been introduced to delineate a distinct form of muscular dystrophy with predominantly proximal upper and lower extremity weakness.
P.G. Barth, Barth, P. G., de Visser, M., A.J. van der Kooi, van der Kooi, A. J., M. de Visser   +5 more
core   +1 more source

Muscle blood flow in Duchenne type muscular dystrophy, limb-girdle dystrophy, polymyositis, and in normal controls

, 1974
Muscle blood flow (MBF) was measured using the local (133)Xenon injection method in patients with Duchenne type muscular dystrophy (six), limb-girdle dystrophy (four), polymyositis (seven), and in normal controls (11).
Paulson, O B, Engel, A G, Gomez, M R
core   +1 more source

An investigation of emerin and nuclear lamins: : Interactions, distribution, and role in cell cycle regulation, in cells derived from EDMD patients. [PDF]

, 2002
Emery Dreifuss muscular dystrophy (EDMD) is caused by mutations either in the gene encoding emerin or in the gene encoding A-type lamins (lamins A and C).
Maria, Choleza
core  

The phenotype of limb-girdle muscular dystrophy type 2I

, 2003
Mutations in the fukutin-related protein gene FKRP cause limb-girdle muscular dystrophy (LGMD2I) as well as a form of congenital muscular dystrophy (MDC1C).
Busby, M, Eagle, M, Brockington, M, Bushby, K, Anderson, LVB, Buddles, M, Bourke, J, Poppe, M, Birchall, D, Wills, A, Muntoni, F, Cree, Lynsey   +11 more
core   +1 more source