Search results for "FHL"

Proteomic identification of FHL1 as the protein mutated in human reducing body myopathy

2007

Reducing body myopathy (RBM) is a rare disorder causing progressive muscular weakness characterized by aggresome-like inclusions in the myofibrils. Identification of genes responsible for RBM by traditional genetic approaches has been impossible due to the frequently sporadic occurrence in affected patients and small family sizes. As an alternative approach to gene identification, we used laser microdissection of intracytoplasmic inclusions identified in patient muscle biopsies, followed by nanoflow liquid chromatography-tandem mass spectrometry and proteomic analysis. The most prominent component of the inclusions was the Xq26.3-encoded four and a half LIM domain 1 (FHL1) protein, expresse…

G.P.5.10 Novel FHL1 mutation in familial mixed reducing body myopathy with rigid spine

2009

EMG and force production of the flexor hallucis longus muscle in isometric plantarflexion and the push-off phase of walking

2015

Large forces are generated under the big toe in the push-off phase of walking. The largest flexor muscle of the big toe is the flexor hallucis longus (FHL), which likely contributes substantially to these forces. This study examined FHL function at different levels of isometric plantarflexion torque and in the push-off phase at different speeds of walking. FHL and calf muscle activity were measured with surface EMG and plantar pressure was recorded with pressure insoles. FHL activity was compared to the activity of the calf muscles. Force and impulse values were calculated under the big toe, and were compared to the entire pressed area of the insole to determine the relative contribution of…

Novel Munc13-4 mutations in children and young adult patients with haemophagocytic lymphohistiocytosis

2006

Familial haemophagocytic lymphohistiocytosis (FHL) is a genetically heterogeneous disorder characterised by constitutive defects in cellular cytotoxicity resulting in fever, hepatosplenomegaly and cytopenia, and the outcome is fatal unless treated by chemoimmunotherapy followed by haematopoietic stem‐cell transplantation. Since 1999, mutations in the perforin gene giving rise to this disease have been identified; however, these account only for 40% of cases. Lack of a genetic marker hampers the diagnosis, suitability for transplantation, selection of familial donors, identification of carriers, genetic counselling and prenatal diagnosis. Mutations in the Munc13–4 gene have recently been des…

Function of the flexor hallucis longus muscle : what do we know? = A flexor hallucis longus izom működése : mit tudunk róla?

2016

Flexor hallucis longus (FHL) muscle has several functions, including plantarflexion of the ankle, flexion of the big toe and support of the medial longitudinal arch. To date, only a few studies have used non-invasive methods to examine FHL behavior during real-life movements, although the proper functioning of this muscle may be important to increase sport performance, the altered FHL function may contribute to the susceptibility to Achilles tendinopathy and the function of FHL is altered in other clinical conditions such as flatfoot. FHL seems to be multifunctional but other active and passive structures also contribute to the same functions. Because of the multifunctionality of the foot s…

Clinical, histological and genetic characterization of reducing body myopathy caused by mutations in FHL1

2008

We recently identified the X-chromosomal four and a half LIM domain gene FHL1 as the causative gene for reducing body myopathy, a disorder characterized by progressive weakness and intracytoplasmic aggregates in muscle that exert reducing activity on menadione nitro-blue-tetrazolium (NBT). The mutations detected in FHL1 affected highly conserved zinc coordinating residues within the second LIM domain and lead to the formation of aggregates when transfected into cells. Our aim was to define the clinical and morphological phenotype of this myopathy and to assess the mutational spectrum of FHL1 mutations in reducing body myopathy in a larger cohort of patients. Patients were ascertained via th…

Isovarpaan pitkän koukistajalihaksen rooli kävelyn aikana

2017

Isovarpaan pitkä koukistajalihas (flexor hallucis longus, FHL) osallistuu moniin eri tehtäviin. FHL:n tehtäviä ovat isovarpaan koukistus ja osittain myös koko jalan ja nilkan plantaarifleksio. FHL-lihas avustaa myös supinaatiossa ja tukee jalan mediaalista pitkittäiskaarta. Tämän tutkimuksen tarkoituksena oli selvittää FHL-lihaksen roolia erilaisten kävelytehtävien aikana. Tutkimuksessa vertailtiin, miten kävelynopeus (hidas, normaali, nopea) ja erilaiset jal-kineet (juoksukengät, varvassandaalit, ilman kenkiä) vaikuttavat FHL-lihaksen aktiivisuuteen. Tutkittavilta mitattiin myös jalan anatomisia mittoja, joiden perusteella määritettiin tutkittavan jalan rakenne (matalakaarinen, normaalikaa…

G.O.2 Proteomic identification of the LIM domain protein FHL1 as the gene-product mutated in reducing body myopathy

2008