Results 31 to 40 of about 924,459 (214)

Improvement of muscle strength in a mouse model for congenital myopathy treated with HDAC and DNA methyltransferase inhibitors

bioRxiv, 2021
To date there are no therapies for patients with congenital myopathies, muscle disorders causing poor quality of life of affected individuals. In approximately 30% of the cases, patients with congenital myopathies carry either dominant or recessive ...
A. Ruiz, S. Benucci, Urs Duthaler, C. Bachmann, M. Franchini, Faiza Noreen, L. Pietrangelo, F. Protasi, S. Treves, F. Zorzato   +9 more
semanticscholar   +1 more source

Electron microscopy in the diagnosis of skeletal muscle disorders: Its utility and limitations

Indian Journal of Pathology and Microbiology, 2022
Electron microscopy (EM) has a substantial role in the diagnosis of skeletal muscle disorders. The ultrastructural changes can be observed in muscle fibers and other components of the muscle tissue. EM serves as a confirmatory tool where the diagnosis is
Rashmi Santhoshkumar, Gayathri Narayanappa   +1 more
doaj   +1 more source

GNE – related severe congenital macrothrombocytopenia: A case report and literature review

Journal of Applied Hematology, 2022
Congenital thrombocytopenia results from genetic mutations in genes implicated in megakaryocyte differentiation and/or platelet formation and clearance.
Muhammad Matloob Alam, Abdulrhman Alathaibi, Muhammad Kashif, Mohammed Zakaria, Ruwayd Adel Attar, Hamdan Saeed Al-Ghamdi, Abdullah Obaid Al Harbi   +6 more
doaj   +1 more source

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 Emerging <i>TNNT3</i> Spectrum: From Distal Arthrogryposis to Congenital Myopathy. [PDF]

Hum Mutat
Distal arthrogryposis (DA) is a group of nonprogressive congenital muscular disorders affecting distal limb joints, without concurrent neuromuscular disease. Ten different types of DAs are known, with many different genes involved.
Altin N, Mamchaoui K, Ohana J, Bigot A, Corradi B, Maragliano L, Madia F, Ognibene M, Nosrati MSS, Paladini D, Iacomino M, Rashid A, Bodamer O, Quijano-Roy S, Punetha J, Capra V, Zara F, Trollet C, Scala M.   +18 more
europepmc   +2 more sources

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   +2 more sources

Congenital Nemaline Myopathy

Pediatric Neurology Briefs, 1994
A female neonate with a rapidly fatal course of nemaline myopathy is reported from the University of Siena, Italy.
J Gordon Millichap
doaj   +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

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

A SPONTANEOUS MOUSE MODEL OF X-LINKED MYOPATHY WITH EXCESSIVE AUTOPHAGY [PDF]

, 2011
the subject of the thesis research project, aims to characterize a murine model for spontaneous muscle pathology comparable to human "X-Linked Vacuolar myopathy with Excessive Autophagy (XMEA)".
Iovane, Valentina
core   +1 more source