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Total 268 results found since Jan 2013.

P.4.13 Central core disease (CCD): Improving the screening for mutations in RYR1 gene
Central core disease (CCD) is a congenital myopathy, characterized by the presence of central core-like areas in muscle fibers. Patients with RYR-related CCD usually have mild or moderate axial and proximal weakness, hypotonia and motor developmental delay. CCD is associated with susceptibility to malignant hyperthermia (MH), and both conditions have been linked to mutations in human RYR1 gene, which encodes a calcium release channel known as ryanodine receptor (RyR1). RYR1 mutational spectrum linked with CCD includes more than 200 described mutations mostly heterozygous dominant missense mutations and minor deletions or d...
Source: Neuromuscular Disorders - September 7, 2013 Category: Neurology Authors: T. Cuperman, S. Alcântara, N.C.V. Lourenço, L.U. Yamamoto, R.C. Pavanello, H.C. Silva, J. Gurgel-Gianetti, M. Zatz, A.S. Oliveira, M. Vainzof Source Type: research

Diagnostic challenge and therapeutic dilemma in necrotizing myopathy
We report on a patient with LGMD2L and HMGCR-associated IMNM without previous statin exposure.
Source: Neurology - September 2, 2013 Category: Neurology Authors: Claeys, K. G., Gorodinskaya, O., Handt, S., Reimann, J., Kress, W., Kornblum, C., Kuhl, C., Schulz, J. B., Weis, J. Tags: MRI, Autoimmune diseases, All Clinical Neurology, Muscle disease, All Genetics CLINICAL/SCIENTIFIC NOTES Source Type: research

Deleting exon 55 from the nebulin gene induces severe muscle weakness in a mouse model for nemaline myopathy
In conclusion, we have characterized the first nebulin-based nemaline myopathy model, which recapitulates important features of the phenotype observed in patients harbouring this particular mutation, and which has severe muscle weakness caused by thin filament dysfunction.
Source: Brain - June 5, 2013 Category: Neurology Authors: Ottenheijm, C. A. C., Buck, D., de Winter, J. M., Ferrara, C., Piroddi, N., Tesi, C., Jasper, J. R., Malik, F. I., Meng, H., Stienen, G. J. M., Beggs, A. H., Labeit, S., Poggesi, C., Lawlor, M. W., Granzier, H. Tags: Original Articles Source Type: research

Adult osteomalacia: A treatable cause of "fear of falling" gait
A 65-year-old man was hospitalized with a gait disorder, obliging him to shuffle laterally1 (video on the Neurology® Web site at www.neurology.org) because of pain and proximal limb weakness. He had a gastrectomy for cancer 7 years previously, with severe vitamin D deficiency; parathormone and alkaline phosphatase were increased, with reduced serum and urine calcium and phosphate. There was reduced bone density (figure). He was mildly hypothyroid and pancytopenic. B12 and folate levels were normal. Investigation for an endocrine neoplasm (CT scan, Octreoscan) was negative. EMG of proximal muscles was typical for chroni...
Source: Neurology - May 27, 2013 Category: Neurology Authors: Ripellino, P., Terazzi, E., Bersano, E., Cantello, R. Tags: Endocrine, Gastrointestinal, Gait disorders/ataxia, Muscle disease, All Neuropsychology/Behavior VIDEO NEUROIMAGES Source Type: research

Troponin activator augments muscle force in nemaline myopathy patients with nebulin mutations
Conclusions Fast skeletal troponin activation is a therapeutic mechanism to augment contractile protein function in nemaline myopathy patients with nebulin mutations and with other neuromuscular diseases.
Source: Journal of Medical Genetics - May 13, 2013 Category: Genetics & Stem Cells Authors: de Winter, J. M., Buck, D., Hidalgo, C., Jasper, J. R., Malik, F. I., Clarke, N. F., Stienen, G. J. M., Lawlor, M. W., Beggs, A. H., Ottenheijm, C. A. C., Granzier, H. Tags: Surgery, Muscle disease, Neuromuscular disease, Surgical diagnostic tests, Clinical diagnostic tests Therapeutics Source Type: research

Abnormal Spontaneous Activity in Lambert-Eaton Myasthenic Syndrome (P02.205)
CONCLUSIONS: We review the literature on needle EMG findings in LEMS, and identify additional reports of abnormal spontaneous activity in LEMS. Cases of LEMS presenting with subacute proximal weakness with marked fibrillation potentials and positive sharp waves on needle EMG can thus be confused with irritable myopathies. A high index of suspicion in such cases should prompt post-exercise testing and repetitive nerve stimulation to distinguish an irritable myopathy from Lambert-Eaton myasthenic syndrome. By analogy to botulism, we hypothesize that the fibrillation potentials and positive sharp waves in LEMS indicate effect...
Source: Neurology - February 14, 2013 Category: Neurology Authors: Roy, G., Youssof, S. Tags: P02 Autoimmune and Congenital Myasthenia Source Type: research

K7del is a common TPM2 gene mutation associated with nemaline myopathy and raised myofibre calcium sensitivity
Mutations in the TPM2 gene, which encodes β-tropomyosin, are an established cause of several congenital skeletal myopathies and distal arthrogryposis. We have identified a TPM2 mutation, p.K7del, in five unrelated families with nemaline myopathy and a consistent distinctive clinical phenotype. Patients develop large joint contractures during childhood, followed by slowly progressive skeletal muscle weakness during adulthood. The TPM2 p.K7del mutation results in the loss of a highly conserved lysine residue near the N-terminus of β-tropomyosin, which is predicted to disrupt head-to-tail polymerization of tropomyos...
Source: Brain - February 13, 2013 Category: Neurology Authors: Mokbel, N., Ilkovski, B., Kreissl, M., Memo, M., Jeffries, C. M., Marttila, M., Lehtokari, V.-L., Lemola, E., Gronholm, M., Yang, N., Menard, D., Marcorelles, P., Echaniz-Laguna, A., Reimann, J., Vainzof, M., Monnier, N., Ravenscroft, G., McNamara, E., No Tags: Original Articles Source Type: research

Recessive MYL2 mutations cause infantile type I muscle fibre disease and cardiomyopathy
In conclusion, the mutations in the last exon of MYL2 are responsible for a novel autosomal recessive lethal myosinopathy due to defects changing the C-terminal tail of the ventricular form of the myosin regulatory light chain. We propose ‘light chain myopathy’ as a name for this MYL2-associated myopathy.
Source: Brain - January 29, 2013 Category: Neurology Authors: Weterman, M. A. J., Barth, P. G., van Spaendonck-Zwarts, K. Y., Aronica, E., Poll-The, B.-T., Brouwer, O. F., van Tintelen, J. P., Qahar, Z., Bradley, E. J., de Wissel, M., Salviati, L., Angelini, C., van den Heuvel, L., Thomasse, Y. E. M., Backx, A. P., Tags: Original Articles Source Type: research

BAFF Expression Correlates with Idiopathic Inflammatory Myopathy Disease Activity Measures and Autoantibodies.
CONCLUSION: These findings highlight the potential importance of BAFF, ΔBAFF, and BAFF-R in the pathogenesis of IIM, and suggest an important role in the assessment of disease activity. PMID: 23322463 [PubMed - as supplied by publisher]
Source: J Rheumatol - January 15, 2013 Category: Rheumatology Authors: De Padilla CM, McNallan KT, Crowson CS, Bilgic H, Bram RJ, Hein MS, Ytterberg SR, Amin S, Peterson EJ, Baechler EC, Reed AM Tags: J Rheumatol Source Type: research

Effect of rosuvastatin on cytokines after traumatic head injury.
Conclusions The authors' data suggest that statins may induce an antiinflammatory effect and may promote recovery after TBI. The role of statins in TBI therapy should be confirmed in larger clinical trials. Clinical trial registration no.: NCT00990028. PMID: 23289819 [PubMed - as supplied by publisher]
Source: Journal of Neurosurgery - January 4, 2013 Category: Neurosurgery Authors: Sánchez-Aguilar M, Tapia-Pérez JH, Sánchez-Rodríguez JJ, Viñas-Ríos JM, Martínez-Pérez P, de la Cruz-Mendoza E, Sánchez-Reyna M, Torres-Corzo JG, Gordillo-Moscoso A Tags: J Neurosurg Source Type: research

Vitamin D deficiency: A forgotten treatable cause of motor delay and proximal myopathy
We report a four-year-old African boy referred for proximal muscle weakness, fatigability and episodic limb pain. Classical causes of structural and metabolic myopathy were initially considered before clinical and biological features of vitamin D deficiency rickets were identified. Prompt treatment with vitamin D and calcium supplementation led to a complete reversal of the muscle symptoms. Rickets-associated myopathy should be included in the differential diagnosis of proximal myopathy, especially in at-risk individuals. Vitamin D deficiency and its prevention remain important health issues in industrialized countries.
Source: Brain and Development - December 28, 2012 Category: Neurology Authors: Joel Fluss, Ilse Kern, Geraldo de Coulon, Elsa Gonzalez, Hassib Chehade Tags: Case reports Source Type: research

Dilated cardiomyopathy in patients with mutations in anoctamin 5
Conclusions: Dilated cardiomyopathy is a potential complication in patients with myopathies due to mutations in the ANO5 gene whose screening requires specific procedures.
Source: International Journal of Cardiology - October 5, 2012 Category: Cardiology Authors: K. Wahbi, A. Béhin, H.M. Bécane, F. Leturcq, M. Cossée, P. Laforêt, T. Stojkovic, P. Carlier, M. Toussaint, V. Gaxotte, P. Cluzel, B. Eymard, D. Duboc Tags: Original Articles Source Type: research