Results 31 to 40 of about 1,216 (116)

Understanding the role of KLHL41 interactors in nemaline myopathy [PDF]

, 2016
Nemaline Myopathy is a congenital disorder that is characterized by muscle weakness and limited mobility. Clinically, Nemaline Myopathy is highly heterogeneous, ranging from severe congenital forms with neonatal death to more mild childhood and adult ...
Jirka, Caroline
core   +1 more source

A case of sporadic late-onset nemaline myopathy with monoclonal gammopathy of undetermined significance : long-term observation of neurological symptoms after autologous stem-cell transplantation [PDF]

, 2021
A 47-year-old woman presented with progressive limb weakness. A neurological examination revealed proximal dominant symmetrical muscle weakness in her limbs, and electromyography revealed complex repetitive discharges and short motor unit potentials with
Kagaya, Yusuke, Kawaguchi, Yuka, Sato, Takahiko, Goto, Yoji, Nakamura, Tomohiko, Katsuno, Masahisa, Sone, Jun, Kuru, Satoshi, Noda, Seiya, Murakami, Ayuka, Hirano, Satoko, Ando, Takashi, Ozawa, Yukiyasu, Mano, Kazuo, Yokoi, Satoshi, Kurahashi, Shingo, Sobue, Gen, Kimura, Seigo   +17 more
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Coexistence of central nucleus, cores, and rods: Diagnostic relevance

Annals of Indian Academy of Neurology, 2016
Background: Congenital myopathies (CMs) though considered distinct disorders, simultaneous occurrence of central nucleus, nemaline rods, and cores in the same biopsy are scarcely reported. Objective: A retrospective reassessment of cases diagnosed as CMs
Sathiyabama Dhinakaran, Rashmi Santhosh Kumar, Ravindra Thakkar, Gayathri Narayanappa   +3 more
doaj   +1 more source

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

Mild clinical presentation in KLHL40-related nemaline myopathy (NEM 8) [PDF]

, 2016
International audienceNemaline myopathies are clinically and genetically heterogeneous muscle diseases characterized by the presence of nemaline bodies (rods) in muscle fibers. Mutations in the KLHL40 (kelch-like family member 40) gene (NEM 8) are common
Forin, Veronique, Gidaro, Teresa, Seferian, Andreea M, Taytard, Jessica, Elena Gargaun, John Rendu, Edoardo Malfatti, Teresa Gidaro, Malfatti, Edoardo, Laurent Pelletier, Caroline Bosson, Andreea M. Seferian, Servais, Laurent, Romero, Norma B., Veronique Forin, Gargaun, Elena, Pierre Carlier, Rendu, John, Romero, Norma B, Julien Fauré, Seferian, Andreea M., Bosson, Caroline, Jessica Taytard, Laurent Servais, Pelletier, Laurent, Carlier, Pierre, Fauré, Julien, Norma B. Romero   +27 more
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Expanding the Utility of Exome Sequencing in Preventive and Population Genetics

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Carrier screening is a long‐standing genetic testing process offered to at‐risk couples, with or without a family history, who might have pregnancies affected by an autosomal recessive (AR) or X‐linked (XL) disorder. A total of 276 unrelated individuals, initially referred for rare disorder screening by clinicians, were enrolled in this study ...
Charilaos Kostoulas, Athanasia Sesse, Ioanna Bouba, Robert Najdecki, Spyridon Konitsiotis, Sofia Markoula, Ioannis Georgiou   +6 more
wiley   +1 more source

Nemaline myopathy caused by TNNT1 mutations in a Dutch pedigree [PDF]

, 2014
Nemaline myopathy (NM) is genetically heterogeneous disorder characterized by early onset muscular weakness and sarcoplasmatic or intranuclear inclusions of rod-shaped Z-disk material in muscle fibers.
Jansen, N.J.G., Mulder, M., Lavrijsen, S.W., Braun, K.P.J., Leijenaar, J.F., Dooijes, D., Spliet, W.G.M., van der Pol, W.L., Ratsma, K., Universiteit Utrecht, Timmers-Raaijmaakers, B.C.M.S., van Haelst, MM   +11 more
core   +3 more sources

Actin nemaline myopathy mouse reproduces disease, suggests other actin disease phenotypes and provides cautionary note on muscle transgene expression.

PLoS ONE, 2011
Mutations in the skeletal muscle α-actin gene (ACTA1) cause congenital myopathies including nemaline myopathy, actin aggregate myopathy and rod-core disease.
Gianina Ravenscroft, Connie Jackaman, Caroline A Sewry, Elyshia McNamara, Sarah E Squire, Allyson C Potter, John Papadimitriou, Lisa M Griffiths, Anthony J Bakker, Kay E Davies, Nigel G Laing, Kristen J Nowak   +11 more
doaj   +1 more source

Integrated Molecular Autopsy in a Highly Consanguineous Perinatal Cohort With Severe Malformations and Strong Genetic Susceptibility

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To evaluate the diagnostic yield of integrated molecular autopsy (IMA) by combining deep post‐mortem phenotyping with exome (ES) and targeted genome sequencing (GS) for prenatally detected anomalies. Method This retrospective study evaluated 28 perinatal cases (22 fetuses, six neonates) with severe anomalies, normal first‐tier ...
Sihem Darouich, Samia Darouich, Ahmed Khemiri, Dorsaf Gtari, Raoudha Smiti, Ahmed Nhili, Houda Bellamine   +6 more
wiley   +1 more source

Dietary L-tyrosine supplementation in Nemaline myopathy

, 2008
Copyright © 2008 Sage PublicationsNemaline myopathy is defined by the presence of nemaline bodies, or rods, on muscle biopsy. Facial and bulbar weakness in nemaline myopathy cause chewing and swallowing difficulties, recurrent aspiration, and poor ...
Ryan, M., Rudge, S., Iannaccone, S., Sy, C., Roddick, L., Ellaway, C., Kornberg, A., Ketteridge, D., North, K.   +8 more
core   +1 more source