Results 91 to 100 of about 484,924 (172)
Characterization of FER1L5, a novel dysferlin myoferlin related protein [PDF]
, 2009 The ferlins are mammalian homologues of the C-elegans sperm vesicle fusion protein FER-1 characterised by multiple C2 domains and a C-terminal anchor.
Ramachandran, Usha Kalyani
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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 +12 more
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Novel Biomarkers for Limb Girdle Muscular Dystrophy (LGMD)
CellsObjective: To identify novel biomarkers as an alternative diagnostic tool for limb girdle muscular dystrophy (LGMD). Background: LGMD encompasses a group of muscular dystrophies characterized by proximal muscles weakness, elevated CK levels and ...
Sara Aguti +9 more
doaj +1 more source
Research Results in PharmacologyIntroduction: 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 +8 more
doaj +1 more source
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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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 +11 more
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Limb girdle muscular dystrophy type 2A presenting with cardiac arrest
, 2001 The occurence of respiratory failure in progressive neuromuscular disorders is well recognized, This failure is observed most commonly in Duchenne dystrophy but sometimes occurs in Becker's, limb-girdle, and facioscapulohumeral dystrophies.
Semra Kurul +7 more
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Isolated semitendinosus involvement in the initial stages of limb-girdle muscular dystrophy 2L
, 2014 Isolated semitendinosus involvement in the initial stages of limb-girdle muscular dystrophy ...
Mercuri, Eugenio Maria
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Oculopharyngeal muscular dystrophy with limb girdle weakness as major complaint.
, 2003 Item does not contain fulltextThis first description of the oculopharyngeal muscular dystrophy (OPMD) phenotype in Dutch patients shows that limb girdle weakness can occur early in the course of disease and can give the first and major complaint in OPMD ...
Hoefsloot, L.H. +4 more
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Revertant fibres and dystrophin traces in Duchenne muscular dystrophy: Implication for clinical trials [PDF]
, 2010 Duchenne muscular dystrophy (DMD) is characterised by the absence of dystrophin in muscle biopsies, although residual dystrophin can be present, either as dystrophin-positive (revertant) fibres or traces.
Main, M +12 more
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