Results 21 to 30 of about 38,417 (217)

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

Variable Myopathic Presentation in a Single Family with Novel Skeletal RYR1 Mutation [PDF]

, 2013
We describe an autosomal recessive heterogeneous congenital myopathy in a large consanguineous family. The disease is characterized by variable severity, progressive course in 3 of 4 patients, myopathic face without ophthalmoplegia and proximal muscle ...
Rokach, O., Ruben Attali, Nevo, Y., Talya Dor, Fellig, Y., Straussberg Rachel, Rachel Straussberg, Aharoni S, TREVES, Susan Nella, Daana, M., Fellig Yakov, Becker Cohen Michal, Mitrani-Rosenbaum Stella, Attali R, Attali Ruben, Yoram Nevo, Rokach O, Attali, R., Dor, T., Becker Cohen M, Susan Treves, Mitrani-Rosenbaum, S., Fellig Y, Aharoni, S., Mitrani Rosenbaum S, Treves, S., Dor T, Nevo Yoram, Aharoni Sharon, Straussberg, R., Michal Becker Cohen, Dor Talya, Straussberg R, Becker Cohen, M., Ori Rokach, Muhannad Daana, Nevo Y., Treves Susan, Daana Muhannad, Stella Mitrani-Rosenbaum, Rokach Ori, Yakov Fellig, Daana M, Sharon Aharoni   +43 more
core   +1 more source

An autopsy study of a familial oculopharyngeal muscular dystrophy (OPMD) with distal spread and neurogenic involvement [PDF]

, 1981
An 81-year-old man from a family with a history of oculopharyngeal muscular dystrophy (OPMD) involving 6 members over 4 generations is described. The patient first noted drooping of his eyelids at the age of 65.
Krause, Klaus-Henning, Schmitt, H.-P.
core   +1 more source

Porcine congenital splayleg is characterised by muscle fibre atrophy associated with relative rise in MAFbx and fall in P311 expression [PDF]

, 2006
<p>Background: Porcine congenital splayleg (PCS) is the most important congenital condition of piglets, associated with lameness and immobility, of unknown aetiology and pathogenesis, hence the need to better understand the condition by defining ...
da Costa, N., da Costa Nuno, Chang, K., Edgar Julia, Ooi, P., Edgar, J., Ooi Peck-Toung, Chang Kin-Chow   +7 more
core   +1 more source

A case of dermatomyositis in a patient with central core disease: unusual association with autoimmunity and genetic muscle disease

Pediatric Rheumatology Online Journal, 2021
Background Dermatomyositis is an inflammatory muscle disease caused by immune-mediated muscle injury, and central core disease (CCD) is a congenital myopathy associated with disturbed intracellular calcium homeostasis and excitation-contraction coupling.
Min Jung Kim, Mi Hyeon Kim, Sung-Hye Park, Yeong Wook Song   +3 more
doaj   +1 more source

Congenital Myopathies: An Update [PDF]

Current Neurology and Neuroscience Reports, 2012
Congenital myopathy is a clinicopathological concept of characteristic histopathological findings on muscle biopsy in a patient with early-onset weakness. Three main categories are recognized within the classical congenital myopathies: nemaline myopathy, core myopathy, and centronuclear myopathy. Recent evidence of overlapping clinical and histological
Jessica R, Nance, James J, Dowling, Elizabeth M, Gibbs, Carsten G, Bönnemann   +3 more
openaire   +2 more sources

Miopatías congénitas

Revista Médica Clínica Las Condes, 2018
: Congenital myopathies are a group of primary hereditary, clinically and genetically heterogeneous skeletal muscle disorders, defined according to histopathologic lesions observed in muscle biopsies.
Edoardo Malfatti, MD, PhD
doaj   +1 more source

Neutral lipid storage disease with myopathy and myotonia associated to pathogenic variants on PNPLA2 and CLCN1 genes: case report

BMC Neurology, 2023
Background Neutral lipid storage disease with myopathy (NLSD-M) is an autosomal recessive disease that manifests itself around the 3rd to 4th decade with chronic myopathy predominantly proximal in the shoulder girdle. Clinical myotonia is uncommon.
João Igor Dantas Landim, Ian Silva Ribeiro, Eduardo Braga Oliveira, Hermany Capistrano Freitas, Lara Albuquerque Brito, Isaac Holanda Mendes Maia, Daniel Gurgel Fernandes Távora, Cleonisio Leite Rodrigues   +7 more
doaj   +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

A novel mutation in MTM1 gene in newborn, resulting in centronuclear myopathy phenotype: a case report

Egyptian Journal of Medical Human Genetics, 2021
Background The X-linked myotubular myopathy (XLMTM) is a rare congenital disease. Its main symptoms are hypotonia, dysmorphic facial features, respiratory failure, and feeding disorder. Case presentation This study reports on a male patient from Neonatal
Aleksandra Dudzik, Weronika Nedza, Katarzyna Końska, Katarzyna Starzec, Tomasz Tomasik, Andrzej Grudzień, Mateusz Jagła, Wojciech Durlak, Przemko Kwinta   +8 more
doaj   +1 more source