Results 41 to 50 of about 3,165 (200)

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

The clinicopathological characteristics analysis and differential diagnosis of muscle disorder cases with nemaline⁃shaped structure

Chinese Journal of Contemporary Neurology and Neurosurgery
Objective Summarize the pathological and clinical characteristics of muscle disorder cases with nemaline⁃shaped structure, to improve the diagnosis and differential diagnosis of the disease.
ZHENG Dan⁃feng, LI Chun⁃yao, LIU Xiang⁃yi, GUO Wen⁃yang, MENG Qing⁃yang, ZHONG Yan⁃feng, ZHANG Ying⁃shuang   +6 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
core   +1 more source

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

De Novo 2.2 Mb 19q13.42–q13.43 Microdeletion Encompassing U2AF2: Support for a Haploinsufficiency Model

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT U2 small nuclear RNA auxiliary factor 2 (U2AF2) is an essential pre‐mRNA splicing factor involved in the early stages of pre‐mRNA splicing. To date, multiple individuals have been reported with predominantly heterozygous missense variants presenting intellectual disability, speech and motor delays, seizures, hypotonia, and thin or hypoplastic ...
Amanda Toledo, Sarah Araji, Weimin Bi, Seema R. Lalani   +3 more
wiley   +1 more source

68-year old man with progressive weakness and ventilator dependent respiratory failure: a case report of sporadic late onset nemaline myopathy

BMC Pulmonary Medicine, 2022
Background Neuromuscular pathologies must be considered when caring for patients with persistent or progressive respiratory failure. Pertinent disease states may involve skeletal muscles of respiration or associated neurologic structures including motor ...
Pradhab Kirupaharan, Daniel Kramer, Alan Gandler, Lawrence Kenyon, Ross Summer   +4 more
doaj   +1 more source

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

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

Coincidence of Nemaline Myopathy and Agenesis of Corpus Callosum in a Newborn Infant: Case Report

Journal of Behçet Uz Children's Hospital, 2019
The diagnosis of the hypotonia at the neonatal period is difficult. In the neonatal period, the differential must include acute illnesses and systemic diseases such as sepsis, congestive heart failure and inborn errors of metabolism. Congenital disorders
Sinem Akbay, Esra Ozer, Ozkan Ilhan, Berat Kanar, Seyma Memur, Gulden Diniz, Dilek Cavusoglu, Nihal Olgaç Dündar   +7 more
doaj   +1 more source