Results 91 to 100 of about 924,459 (214)

The KLHL40 c.1516A>C is a Chinese‐specific founder mutation causing nemaline myopathy 8: Report of six patients with pre‐ and postnatal phenotypes

Molecular Genetics & Genomic Medicine, 2020
Background Autosomal recessive or compound heterozygous mutations in KLHL40 cause nemaline myopathy 8, which is one of the most severe forms of nemaline myopathy.
Kit San Yeung, Florrie N. Y. Yu, Cheuk Wing Fung, Sheila Wong, Hencher H. C. Lee, Sharon T. H. Fung, Genevieve P. G. Fung, Kwok Yin Leung, Wai Hang Chung, Yun Ting Lee, Vivian K. S. Ng, Mullin H. C. Yu, Jasmine L. F. Fung, Mandy H. Y. Tsang, Kelvin Y. K. Chan, Sophelia H. S. Chan, Anita S. Y. Kan, Brian H. Y. Chung   +17 more
doaj   +1 more source

A novel TPM2 gene splice-site mutation causes severe congenital myopathy with arthrogryposis and dysmorphic features

Journal of Applied Genetics, 2016
To date, only two splice-site mutations within the TPM2 gene have been shown to be causative for congenital myopathies. While the majority of TPM2 gene mutations are causative for nemaline myopathy, cap disease or distal arthrogryposis, some mutations in
M. Mroczek, D. Kabzińska, K. Chrzanowska, M. Pronicki, A. Kochański   +4 more
semanticscholar   +1 more source

Genetic epilepsies with myoclonic seizures: Mechanisms and syndromes

Epilepsia Open, EarlyView.
Abstract Genetic epilepsy with myoclonic seizures encompasses a heterogeneous spectrum of conditions, ranging from benign and self‐limiting forms to severe, progressive disorders. While their causes are diverse, a significant proportion stems from genetic abnormalities.
Antonietta Coppola, Marica Rubino, Antonella Riva, Pasquale Striano   +3 more
wiley   +1 more source

Aerobic Training in Patients with Congenital Myopathy

PLoS ONE, 2016
Introduction Congenital myopathies (CM) often affect contractile proteins of the sarcomere, which could render patients susceptible to exercise-induced muscle damage. We investigated if exercise is safe and beneficial in patients with CM.
G. Hedermann, C. R. Vissing, K. Heje, N. Preisler, N. Witting, J. Vissing   +5 more
semanticscholar   +1 more source

GNE Myopathy with Congenital Thrombocytopenia [PDF]

, 2018
GNE myopathy is a distal dominant myopathy with characteristic sparing of quadriceps, which is known to be caused by mutation of the GNE gene. Recently, there were some reports of thrombocytopenia that concurred with GNE myopathy. We also present a case
최영철, 이정환, 김세훈, 허준녕, 신하영   +4 more
core  

Congenital heart block associated with Sjögren syndrome: case report [PDF]

, 2009
Background: Congenital heart block is a rare complication of pregnancy associated with Sjögren Syndrome that may result in the death of the foetus or infant, or the need for pacing in the newborn or at a later stage.Case report: The case is presented of ...
Poate, Timothy W.J., Penelope J Shirlaw, Michael P Escudier, Shirlaw, Penelope J., Moutasim, Karwan A., Timothy WJ Poate, Escudier, Michael P., Karwan A Moutasim   +7 more
core   +1 more source

Cervical Inlet Patches in R‐CPD: An Unrecognized Predictor of Treatment Failure

The Laryngoscope, EarlyView.
This retrospective cohort study identified cervical inlet patches (CIP) in 19.8% of patients undergoing cricopharyngeal botulinum toxin injection for R‐CPD. CIP presence and increasing age independently predicted failure to sustain a long‐term treatment response, suggesting that CIP may be an underrecognized factor in R‐CPD treatment durability ...
Andrew Geoffrey Tritter, Nabeeha Hasan, Jered Wilson   +2 more
wiley   +1 more source

Data‐Driven Insights into Hyperkinetic Disorders in Neurodevelopmental Syndromes and Epileptic Encephalopathies

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Childhood‐onset hyperkinetic movement disorders occur in a range of genetic conditions. Recently, there has been an increase in recognition of hyperkinetic movement disorders, mainly dystonia, chorea and dyskinesia, with monogenic conditions associated with neurodevelopmental delay (NDD) and also with developmental and epileptic ...
Hugo Morales‐Briceño, Shekeeb S. Mohammad, Rajeshwar Reddy Angiti, Velda Han, Michel Tchan, Russell C. Dale, Victor S.C. Fung   +6 more
wiley   +1 more source

Loss-of-function mutations in SCN4A cause severe foetal hypokinesia or ‘classical’ congenital myopathy

Brain : a journal of neurology, 2015
See Cannon (doi: 10.1093/brain/awv400 ) for a scientific commentary on this article. Dominant gain-of-function mutations in SCN4A , which encodes the α-subunit of the voltage-gated sodium channel, are a common cause of myotonia and periodic paralysis ...
I. Zaharieva, M. Thor, E. Oates, C. V. van Karnebeek, G. Hendson, E. Blom, N. Witting, M. Rasmussen, M. Gabbett, G. Ravenscroft, M. Sframeli, K. Suetterlin, A. Sarkozy, L. D'Argenzio, L. Hartley, E. Matthews, M. Pitt, J. Vissing, M. Ballegaard, C. Krarup, Andreas Slørdahl, H. Halvorsen, X. Ye, Lin-Hua Zhang, N. Løkken, U. Werlauff, M. Abdelsayed, Mark R. Davis, Lucy H. Feng, R. Phadke, C. Sewry, J. Morgan, N. Laing, H. Vallance, P. Ruben, M. Hanna, S. Lewis, E. Kamsteeg, R. Männikkö, F. Muntoni   +39 more
semanticscholar   +1 more source

Genetic Etiologies of Dystonia with Anarthria/Aphonia

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Dystonia with anarthria and/or aphonia (DAnAp) represents a distinctive phenotype manifesting across lifespan. Frequently associated with genetic disorders, early recognition is critical for diagnosis and management. Objectives To provide practical recommendations for the clinical evaluation of patients with DAnAp, enhancing ...
Anika Ménétrey, Eriberto Rayco, Maziar Emamikhah Abarghouei, Susan H. Fox, Anthony E. Lang, George M. Ibrahim, Carolina Gorodetsky, Christos Ganos   +7 more
wiley   +1 more source