Results 31 to 40 of about 5,284 (245)

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

Generation of two isogenic induced pluripotent stem cell lines from a 4-month-old severe nemaline myopathy patient with a heterozygous dominant c.553C > A (p.Arg183Ser) variant in the ACTA1 gene

Stem Cell Research, 2021
Nemaline myopathy (NM) is a congenital myopathy typically characterized by skeletal muscle weakness and the presence of abnormal thread- or rod-like structures (nemaline bodies) in myofibres.
Joshua S. Clayton, Carolin K. Scriba, Norma B. Romero, Edoardo Malfatti, Safaa Saker, Thierry Larmonier, Kristen J. Nowak, Gianina Ravenscroft, Nigel G. Laing, Rhonda L. Taylor   +9 more
doaj   +1 more source

An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge [PDF]

, 2014
BACKGROUND: There is tremendous potential for genome sequencing to improve clinical diagnosis and care once it becomes routinely accessible, but this will require formalizing research methods into clinical best practices in the areas of sequence data ...
Adzhubey, I., Andorf, J. L., Azaiez, H., Bair, T., Bassuk, A. G., Beggs, A. H., Biskup, S., Black-Ziegelbein, E. A., Booth, K., Bossler, A., Braun, M., Braun, T. A., Brownstein, C. A., Campbell, C. A., Cassa, C. A., Corsmeier, D., Darbro, B., de Bakker, P. I., Dechene, E. T., Deluca, A. P., Deng, M., Duzkale, H., Dworzy Ski, P., Edens, E., Fairbrother, W., Finkel, R. S., Fitzgerald-Butt, S., Flannery, K. C., Francioli, L., Freisinger, P., Funke, B. H., Giovanni, M. A., Gugenmus, C., Hahn, A., Handsaker, R. E., Herman, G., Heusel, J. W., Holm, I. A., Homer, N., Huang, J., Klocke, B., Kolbe, D. L., Kwitek, A., Lage, K., Lamb-Thrush, D., Lebo, M. S., Lek, M., Leshchiner, I., Luquette, L. J., Lyon, E., Macarthur, D. G., Maga, T., Majzoub, J., Mathews, K., McCallie, D., McLaughlin, H. M., Medne, L., Mendelsohn, N. J., Menzel, M., Merriman, B., Meyer, N., Moore, S. A., Murray, M. F., Neupert, P., Panzer, K., Perner, S., Pers, T. H., Polak, P. P., Price, E. N., Raychaudhuri, S., Rehm, H. L., Ryckman, K., Savage, S. K., Scheetz, T. E., Schubach, M., Segal, M. M., Shchelochkov, O. A., Shearer, A. E., Sheffield, V. C., Smith, R. J., Soemedi, R., Sompallae, R., Stitziel, N. O., Stone, E. M., Sunyaev, S. R., Supper, J., Szolovits, P., Temme, R., Towne, M. C., Trapane, P., Tromp, G., Van Daele, D., Vestecka, S., Wang, K., Wassink, T., White, P., Willard, H. F., Williams, M. S., Yu, T. W., Yum, S. W.   +99 more
core   +6 more sources

Camptocormia as the presenting symptom in sporadic late onset nemaline myopathy: a case report

BMC Musculoskeletal Disorders, 2019
Background Camptocormia has been reported in a plethora of diseases comprising disorders of the central nervous system, the peripheral nervous system, and the neuromuscular junction as well as hereditary and acquired myopathies.
Matthias Türk, Armin M. Nagel, Frank Roemer, Ursula Schlötzer-Schrehardt, Christian T. Thiel, Martin Winterholler, Rolf Schröder   +6 more
doaj   +1 more source

A practical approach to the patient presenting with dropped head [PDF]

, 2016
Head drop, or having a dropped head, is an uncommon condition in which patients present with a disabling inability to lift their head. It may arise in many neurological conditions that can be divided into those with neuromuscular weakness of neck ...
Demicoli, Marija, Marsh, Eleanor A.
core   +1 more source

Profound Hypotonia and Respiratory Failure due to Suspected Nemaline Myopathy in a Preterm Infant

American Journal of Perinatology Reports, 2021
Congenital myopathies, such as nemaline myopathy, may present with hypotonia and respiratory failure in the neonatal period. Respiratory function can be further compromised in affected infants by the development of chylous effusions.
Gloria Akuamoah-Boateng, Raymond C. Stetson, Bethany D. Kaemingk, David A. Bieber, Jane E. Brumbaugh   +4 more
doaj   +1 more source

Kelch proteins: emerging roles in skeletal muscle development and diseases [PDF]

, 2014
Our understanding of genes that cause skeletal muscle disease has increased tremendously over the past three decades. Advances in approaches to genetics and genomics have aided in the identification of new pathogenic mechanisms in rare genetic disorders ...
Beggs, Alan H, Gupta, Vandana A
core   +1 more source

Respiratory treatment in a patient with nemaline myopathy

Clinics and Practice, 2019
Respiratory involvement of nemaline myopathy is evident on the diaphragm and intercostal muscles function. The present case study aimed to describe the characteristics of the respiratory physiotherapeutic treatment in a patient with nemaline myopathy ...
Massimiliano Polastri, Gioacchino Schifino, Eva Tonveronachi, Francesco Tavalazzi   +3 more
doaj   +1 more source

Congenital myopathies: characteristic and subtypes in Hong Kong [PDF]

, 2015
This journal suppl. entitled: 20th International Congress of The World Muscle SocietyCongenital myopathies are a group of childhood onset neuromuscular disorder with the diagnosis mainly based on genetic and pathological features.
Chan, AOK, Chan, HSS, Chan, TSK, Cheng, Y, Cherk, SWW, Fung, STH, Ho, RSL, Ip, JJK, Lam, WMW, Lee, CN, Lee, HCH, Liu, KT, Ng, GSF, Shek, WH, Wong, S, Wong, VCN   +15 more
core   +1 more source

Sporadic late onset nemaline myopathy with monoclonal gammopathy of undetermined significance: two cases with long term stability

European Journal of Translational Myology, 2020
Monoclonal gammopathy of undetermined significance (MGUS) associated to sporadic late onset nemaline myopathy (SLONM) is a rare and severely disabling condition of quickly progressive limb girdle acquired myopathy.
André Truffert, Ruxandra Iancu Ferfoglia, Johannes Alexander Lobrinus, Kaveh Samii, André Kohler   +4 more
doaj   +1 more source