Results 51 to 60 of about 39,732 (154)

Paradoxical pseudomyotonia in English Springer and Cocker Spaniels

Journal of Veterinary Internal Medicine, 2020
Background Paramyotonia congenita and Brody disease are well‐described conditions in humans, characterized by exercise‐induced myotonic‐like muscle stiffness. A syndrome similar to Brody disease has been reported in cattle.
Kimberley Stee, Mario Van Poucke, Luc Peelman, Mark Lowrie   +3 more
doaj   +1 more source

Severe infantile hyperkalaemic periodic paralysis and paramyotonia congenita: broadening the clinical spectrum associated with the T704M mutation in SCN4A.

, 2003
The authors describe an Italian kindred with nine individuals affected by hyperkalaemic periodic paralysis associated with paramyotonia congenita (hyperPP/PMC).
VALENTE EM, PIZZUTI A, LOMONACO M, DAVIES NP, SARKOZY A, SWEENEY MG, DALLAPICCOLA B., BRANCATI, Francesco, HANNA MG   +8 more
core   +2 more sources

Muscle biopsy and cell cultures: potential diagnostic tools in hereditary skeletal muscle channelopathies

European Journal of Histochemistry, 2009
Hereditary muscle channelopathies are caused by dominant mutations in the genes encoding for subunits of muscle voltage- gated ion channels. Point mutations on the human skeletal muscle Na+ channel (Nav1.4) give rise to hyperkalemic periodic paralysis ...
G Meola, V Sansone, G Rotondo, E Mancinelli   +3 more
doaj   +1 more source

Adynamia episodica hereditaria with myotonia: A non-inactivating sodium current and the effect of extracellular pH [PDF]

, 1987
To study the mechanism of periodic paralysis, we investigated the properties of intact muscle fibers biopsied from a patient who had adynamia episodica hereditaria with electromyographic signs of myotonia.
Ballanyi, Klaus, Lehmann-Horn, Frank, Gerald Küther, Peter Grafe, Klaus Ballanyi, Rüdel, Reinhardt, Kenneth Ricker, Grafe, Peter, Frank Lehmann‐Horn, Küther, Gerald, Ricker, Kenneth, Reinhardt Rüdel   +11 more
core   +1 more source

Clinical, electrophysiological, and molecular genetic studies in a new family with paramyotonia congenita.

, 2000
Objectives-To characterise the clinical and electrophysiological features and to determine the molecular genetic basis of pure paramyotonia congenita in a previously unreported large Irish kindred.
Mills, K R, Morrison, P J, Davies, N P, Eunson, L H, Gregory, R P, Hanna, M G, Morrison, Patrick   +6 more
core   +1 more source

An alternate translation initiation site circumvents an amino-terminal DAX1 nonsense mutation leading to a mild form of X-linked adrenal hypoplasia congenita [PDF]

, 2003
Mutations in DAX1 [dosage-sensitive sex reversal-adrenal hypoplasia congenita (AHC) critical region on the X chromosome gene 1; NROB1] cause X-linked AHC, a disease characterized by primary adrenal failure in infancy or childhood and reproductive ...
Beck-Peccoz, P, J. L. Jameson, A. Spada, Spada, A, G. Mantovani, Weiss, J, P. Beck-Peccoz, Ozisik, G, L. Persani, Achermann, JC, Mantovani, G, J. C. Achermann, J. Weiss, Persani, L, Jameson, JL, G. Ozisik   +15 more
core   +1 more source

Paramyotonia congenita and hyperkalemic periodic paralysis are linked to the adult muscle sodium channel gene.

, 1991
The hyperkalemic periodic paralyses are a clinically heterogeneous group of autosomal dominant syndromes characterized by episodic paralysis associated with an elevated serum potassium level.
Lathrop, GM, Beckmann, JS, Ting-Passador, SS, Kallen, R. G., Hudson, A. J., Kallen, RG, Brown, WF, Campbell, R. D., George, AL, Hahn, AF, Ebers, G. C., Lathrop, G. M., Ebers, GC, Ting-Passador, S. S., Hahn, A. F., George, A. L., Brown, W. F., Ebers, George, Campbell, RD, Barchi, R. L., Beckmann, J. S., Barchi, RL   +21 more
core   +1 more source

Factors of Importance for Continuing Education After Primary School in Young People With Neuromuscular Diseases—Patient‐Reported Outcomes From a National Survey

International Journal of Pediatrics, Volume 2025, Issue 1, 2025.
Rationale: Young people with neuromuscular diseases (NMDs) are especially at risk of being absent from school because of various symptoms, consequences of their disease, and frequent hospital visits. Growing up with a chronic disease can entail an increased risk of poor educational outcomes. Aims: The study is aimed to investigate factors of importance
Charlotte Handberg, Kristin Allergodt, Annette Mahoney, Ann-Lisbeth Højberg, Somashekhar Marutirao Nimbalkar   +4 more
wiley   +1 more source

Known pathogenic gene variants and new candidates detected in sudden unexpected infant death using whole genome sequencing

American Journal of Medical Genetics Part A, Volume 194, Issue 11, November 2024.
Abstract The purpose of this study is to gain insights into potential genetic factors contributing to the infant's vulnerability to Sudden Unexpected Infant Death (SUID). Whole Genome Sequencing (WGS) was performed on 144 infants that succumbed to SUID, and 573 healthy adults.
Angela M. Bard, Lindsay V. Clark, Erdal Cosgun, Kimberly A. Aldinger, Andrew Timms, Lely A. Quina, Juan M. Lavista Ferres, David Jardine, Elisabeth A. Haas, Tatiana M. Becker, Chelsea M. Pagan, Avni Santani, Diego Martinez, Soumitra Barua, Zakkary McNutt, Addie Nesbitt, Edwin A. Mitchell, Jan‐Marino Ramirez   +17 more
wiley   +1 more source

Clinical case seminar - Hypogonadotropic hypogonadism as a presenting feature of late-onset X-linked adrenal hypoplasia congenita [PDF]

, 2002
Mutations in the orphan nuclear receptor DAX-1 cause X-linked adrenal hypoplasia congenita. Affected boys usually present with primary adrenal failure in early infancy or childhood.
Beck-Peccoz, P, Achermann, JC, Romoli, R, Spada, A, Mantovani, G, Persani, L, Jameson, JL, Ozisik, G, Borretta, G   +8 more
core