Results 11 to 20 of about 314,455 (204)

Flexible intramedullary nailing for distal femoral fractures in patients with myopathies

Journal of Children's Orthopaedics, 2012
Purpose Distal femoral fractures are quite common in nonambulating patients with myopathies, as they present marked osteoporosis. The deterioration of preexisting knee flexion contracture is a known problem, as these fractures are usually angulated ...
Hanspeter Huber, Guillaume André, Francine Rumeau, Pierre Journeau, Thierry Haumont, Pierre Lascombes   +5 more
doaj   +2 more sources

Clinical and muscle imaging findings in 14 mainland chinese patients with oculopharyngodistal myopathy. [PDF]

PLoS ONE, 2015
Oculopharyngodistal myopathy (OPDM) is an extremely rare, adult-onset hereditary muscular disease characterized by progressive external ocular, pharyngeal, and distal muscle weakness and myopathological rimmed vacuole changes.
Juan Zhao, Jing Liu, Jiangxi Xiao, Jing Du, Chengli Que, Xin Shi, Wei Liang, Weiping Sun, Wei Zhang, He Lv, Yun Yuan, Zhaoxia Wang   +11 more
doaj   +1 more source

Distal myopathies a review: Highlights on distal myopathies with rimmed vacuoles [PDF]

, 2010
Distal myopathies are a group of heterogeneous disorders classified into one broad category due to the presentation of weakness involving the distal skeletal muscles.
Nonaka, Ikuya, Malicdan, May Christine V.   +1 more
core   +2 more sources

A novel recessive mutation affecting DNAJB6a causes myofibrillar myopathy

Acta Neuropathologica Communications, 2021
Mutations in the DNAJB6 gene have been identified as rare causes of myofibrillar myopathies. However, the underlying pathophysiologica mechanisms remain elusive.
Fang-Yuan Qian, Yu-Dong Guo, Juan Zu, Jin-Hua Zhang, Yi-Ming Zheng, Idriss Ali Abdoulaye, Zhao-Hui Pan, Chun-Ming Xie, Han-Chao Gao, Zhi-Jun Zhang   +9 more
doaj   +1 more source

Lower Limb Radiology of Distal Myopathy due to the S60F Myotilin Mutation [PDF]

, 2009
Distal myopathies are a clinically and genetically heterogenous group of disorders in which the distal limb musculature is selectively or disproportionately affected.
Birchall, Daniel, Goldfarb, Lev, Lochmueller, Hanns, Walter, Maggie C., Chinnery, Patrick F., Reilich, Peter, McNeill, Alisdair, Schramm, Nicolai, Straub, Volker   +8 more
core   +1 more source

Late-onset myopathy of the posterior calf muscles mimicking Miyoshi myopathy unrelated to dysferlin mutation: a case report

Journal of Medical Case Reports, 2012
Introduction Miyoshi myopathy, a type of distal myopathy with predominant involvement of the posterior calf muscles, has been assigned to mutations in the dysferlin gene.
Neusch Clemens, Kuhlmann Tanja, Kress Wolfram, Schneider-Gold Christiane   +3 more
doaj   +1 more source

Novel Desmin Mutation Causing Myofibrillar Myopathy in a Hmong Family

Frontiers in Neurology, 2020
Myofibrillar myopathies (MFM) are a clinically and genetically heterogenous group of inherited myopathies characterized by aggregation of Z-disc proteins. Mutations in desmin account for ~7% of MFM.
Stefan Nicolau, Benjamin M. Howe, Elie Naddaf   +2 more
doaj   +1 more source

Treatment of severe equinovarus deformity associated with distal myopathy

Foot & Ankle Surgery: Techniques, Reports & Cases, 2023
Inclusion body myopathy (IBM) is a form of distal myopathy which is characterized by progressive muscle weakness and wasting.1 A healthy 23-year-old male with unremarkable past medical history presented with left ankle pain and contracture of ...
Caleb Thomas, DPM, Assal Nour Ziai, DPM, FACFAS, Ellianne M. Nasser, DPM, CWS, FACFAS   +2 more
doaj   +1 more source

A recurrent single-amino acid deletion (p.Glu500del) in the head domain of ß-cardiac myosin in two unrelated boys presenting with polyhydramnios, congenital axial stiffness and skeletal myopathy

Orphanet Journal of Rare Diseases, 2022
Background Alterations in the MYH7 gene can cause cardiac and skeletal myopathies. MYH7-related skeletal myopathies are extremely rare, and the vast majority of causal variants in the MYH7 gene are predicted to alter the rod domain of the of ß-cardiac ...
Ingrid Bader, M. Freilinger, F. Landauer, S. Waldmüller, W. Mueller-Felber, C. Rauscher, W. Sperl, R. E. Bittner, W. M. Schmidt, J. A. Mayr   +9 more
doaj   +1 more source

Congenital myopathies: The current status

Indian Journal of Pathology and Microbiology, 2022
Within the history of neuromuscular diseases (NMD), congenital myopathies (CM) represent a relatively new category introduced in the mid-nineteen hundreds upon advent and subsequent application of enzyme histochemistry and electron microscopy by ...
Hans H Goebel, Carsten Dittmayer, Werner Stenzel   +2 more
doaj   +1 more source