Results 101 to 110 of about 10,564 (213)

Mapping the Limb Girdle Muscular Dystrophy Gene

, 2007
肢帶型肌肉失養症是排除目前已知、特異性的退化性肌肉疾病後，一群由表現特徵為漸進式肩帶和腰帶等近端肌肉無力，以及肌肉萎縮為臨床表現的疾病總稱。它的臨床及基因遺傳表現具有多樣性，顯示是由不同的遺傳方式和病因所造成的疾病。我們研究一個四代、以體染色體顯性形式遺傳的漸進性肌肉無力家庭。首先，排除已知會造成體染色體顯性遺傳的肢帶型肌肉失養症基因的五個染色體位置所在，其中包含5q31 (1A)，1q11-21 (1B)，3p25 (1C)，6q23 (1D)和7q (1E)。在論文裡 ...
楊玉婉, Yang, Yu-Wan
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Assessment of physiological parameters in the application of a double adeno-associated virus 9 with a codon-optimized DYSF gene for limb girdle muscular dystrophy type R2

Research Results in Pharmacology
Introduction: Gene therapy for Myoshi myopathy is extremely relevant, as it may become the first pathogenetic treatment for dysferlinopathy. The aim of this study was to study the efficacy and safety of the use of a genetic construct, the AAV9-DYSF-DV3 ...
Elеna V. Kuzubova, Alexandra I. Radchenko, Andrey А. Manuylov, Ariana M. Korokina, Natalia V. Koroleva, Ivan A. Yakovlev, Arthur A. Isaev, Roman V. Deev, Mikhail V. Korokin   +8 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 2I is caused by mutations in the fukutin-related protein gene (FKRP). FKRP encodes a putative glycosyltransferase protein that is involved in -dystroglycan glycosylation.
GAVASSINI BF, BOITO, CHIARA, MELACINI, PAOLA, VIANELLO A, PEGORARO, ELENA, SICILIANO G, PRANDINI P, ANGELINI, CORRADO, BAGATTIN A   +8 more
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Functional protein networks unifying limb girdle muscular dystrophy

, 2011
Limb Girdle Muscular Dystrophy (LGMD) is a rare progressive heterogeneous disorder that can be caused by mutations in at least 21 different genes. These genes are often widely expressed and encode proteins with highly differing functions.
Morrée, A. de
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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
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Muscle MRI findings in patients with limb girdle muscular dystrophy with calpain 3 deficiency (LGMD2A) and early contractures

, 2005
Limb girdle muscular dystrophy 2A is a common variant secondary to mutations in the calpain 3 gene. A proportion of patients has early and severe contractures, which can cause diagnostic difficulties with other conditions.
Mercuri E., Ricci E., Pane M.
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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

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
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Limb Girdle Muscular Dystrophy with Cardiac Conduction Block [PDF]

, 2015
Introduction: Limb-girdle muscular dystrophy refers to disorders that cause wasting and weakness of the muscles around the shoulders and hips with autosomal pattern of inheritance.
Krishnaswamy Kothandapani, Shyamala, sudulagunta, Sreenivasa rao, Gonivada, Jayadevappa, Sodalagunta, Mahesh Babu   +3 more
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A novel form of recessive limb girdle muscular dystrophy with mental retardation and abnormal expression of alpha-dystroglycan

, 2003
The limb girdle muscular dystrophies are a heterogeneous group of conditions characterized by proximal muscle weakness and disease onset ranging from infancy to adulthood.
Topaloglu, H., Yuva, Y, Atalay, RC, Dincel, D, Kale, G., Haliloglu, G., Dincer, P., Gerceker, FO, Longman, C., Yakıcıer, C., Balci, BURCU, Yakicier, C, Haliloglu, G, Dincer, PERVİN RUKİYE, Muntoni, F., Yuva, Y., Talim, BERİL, Kale, G, Balcı, B., Dincel, D., Brockington, M., Brockington, M, Torelli, S, Talim, B., Atalay, R. C., Muntoni, F, Torelli, S., Topaloglu, H, Gerceker, F. O., Longman, C, Sue, B. B., Sue, BB   +31 more
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