Results 21 to 30 of about 16,852 (152)

Distal Vacuolar Myopathy in Cystinosis

Pediatric Neurology Briefs, 1994
Distal vacuolar myopathy in 13 post-renal-transplant cystinosis patients, ages 17 to 27 years, and studied at multiple centers, is reported from the National Institute of Child Health and Human Development, Bethesda, MD.
J Gordon Millichap
doaj   +1 more source

GNE myopathy: from clinics and genetics to pathology and research strategies

Orphanet Journal of Rare Diseases, 2018
GNE myopathy is an ultra-rare autosomal recessive disease, which starts as a distal muscle weakness and ultimately leads to a wheelchair bound state.
Oksana Pogoryelova, José Andrés González Coraspe, Nikoletta Nikolenko, Hanns Lochmüller, Andreas Roos   +4 more
doaj   +1 more source

Congenital Myasthenic Syndrome with Agrin Mutations

Pediatric Neurology Briefs, 2014
Investigators at Newcastle University, UK, and Hopitaux de Paris, France, report 5 patients from 3 unrelated families with a strikingly homogeneous clinical entity combining congenital myasthenia with distal muscle weakness and atrophy resembling a ...
J Gordon Millichap, John J Millichap
doaj   +1 more source

Case report of a family with hereditary inclusion body myopathy with VCP gene variant and literature review

Frontiers in Neurology, 2023
BackgroundMissense VCP gene variants lead to a disruption in protein homeostasis causing a spectrum of progressive degenerative diseases. Myopathy is the most frequent manifestation characterized by slowly progressing weakness of proximal and distal limb
Greta Asadauskaitė, Ramunė Vilimienė, Vytautas Augustinavičius, Birutė Burnytė   +3 more
doaj   +1 more source

Anaesthetic management of a case of distal myopathy [PDF]

Indian Journal of Anaesthesia, 2014
Neelam Agrawal, Ankur Sharma, Ravindra Batra   +2 more
doaj   +2 more sources

Distal Myopathies and Beyond: An Updated Overview of the Welander Distal Myopathy

Cells
Myopathies are a heterogeneous group of disorders that primarily affect skeletal muscles and are classified as rare diseases owing to their low incidence.
Ana García-Rubio, Julia Sánchez De los Santos, José M. Izquierdo   +2 more
doaj   +1 more source

Laing Early-onset Distal Myopathy Due to the MYH7 Mutation in an Iranian Family

Journal of Pediatrics Review, 2020
Introduction: Laing early-onset distal myopathy is a disorder with autosomal dominant inheritance pattern caused by a mutation in the MYH7 gene that encodes the human β-myosin heavy chain.
Shabnam Ghazanfari-Sarabi, Mostafa Rayati, Mohammad Bagher Hashemi-Soteh   +2 more
doaj  

Different electrophysiology patterns in GNE myopathy

Orphanet Journal of Rare Diseases, 2022
Background GNE myopathy is a rare distal myopathy caused by mutations of the GNE gene. A few cases of GNE myopathy accompanied by neurogenic features of electrophysiology mimicking hereditary motor neuropathy were reported recently.
Xiangyi Liu, Yingshuang Zhang, Shuo Zhang, Aping Sun, Danfeng Zheng, Dongsheng Fan, Xiaoxuan Liu   +6 more
doaj   +1 more source

Asymmetric Distal-Onset GNE Myopathy Mimicking Peripheral Neuropathy: A Case Report

Case Reports in Neurology
Introduction: GNE myopathy is a rare autosomal recessive distal myopathy classically characterized by symmetrical distal muscle weakness with relative quadriceps sparing. However, phenotypic variability, including asymmetric onset, may obscure
Dipta Chandra Kuri, Sadeka Afrin Losy, Mohammad Sadekur Rahman Sarkar, Md. Badrul Alam Mondal   +3 more
doaj   +1 more source

Myogenesis defects in a patient-derived iPSC model of hereditary GNE myopathy

npj Regenerative Medicine, 2022
Hereditary muscle diseases are disabling disorders lacking effective treatments. UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase (GNE) myopathy (GNEM) is an autosomal recessive distal myopathy with rimmed vacuoles typically manifesting in ...
Rebecca E. Schmitt, Douglas Y. Smith, Dong Seong Cho, Lindsey A. Kirkeby, Zachary T. Resch, Teerin Liewluck, Zhiyv Niu, Margherita Milone, Jason D. Doles   +8 more
doaj   +1 more source