scholarly journals GNE myopathy

2020 ◽  
Author(s):  
Keyword(s):  
Gne Myopathy

Thigh and Leg Muscle MRI Findings in GNE Myopathy

2021 ◽  
pp. 1-8
Author(s):  
Farzad Fatehi ◽  
Soroor Advani ◽  
Ali Asghar Okhovat ◽  
Bentolhoda Ziaadini ◽  
Hosein Shamshiri ◽  
...  
Keyword(s):  
Tibialis Anterior ◽  
Vastus Lateralis ◽  
Fatty Infiltration ◽  
Muscular Dystrophies ◽  
Tibialis Posterior ◽  
Muscle Mri ◽  
Muscle Involvement ◽  
Fat Infiltration ◽  
Gne Myopathy ◽  
Adductor Magnus

Background: Muscle MRI protocols have been developed to assess muscle involvement in a wide variety of muscular dystrophies. Different muscular dystrophies can involve muscle groups in characteristic patterns. These patterns can be identified in muscle MRI in the form of fatty infiltration. Objective: This study was conducted to add the existing knowledge of muscle MRI in GNE myopathy and evaluate the correlation of muscular involvement with different gene mutations. Methods: The MRI scans of the 18 GNE patients were analyzed retrospectively. Cluster analysis was done for grouping the muscles and patients. Results: The four muscles with the highest fat infiltration were adductor magnus, tibialis anterior, semitendinosus, and semimembranosus. Furthermore, three clusters of muscle involvement were found, including cluster 1, typical muscle involvement indicating muscles with the highest infiltration: extensor digitorum longus, gracilis, biceps femoris, soleus, gastrocnemius medial, adductor longus, tibialis anterior, adductor magnus, semimembranosus, semitendinosus; cluster 2, less typical muscle involvement indicating muscles with intermediate fat infiltration, peroneus longus, gastrocnemius lateral, and minimal fat infiltration in most of the patients, i.e., tibialis posterior; and cluster 3, atypical muscle involvement with low-fat infiltration: rectus femoris, sartorius, vastus intermedius, vastus medialis, and vastus lateralis. Conclusions: This study found three clusters of muscle involvement and three groups of patients among GNE patients. Hamstring muscles and the anterior compartment of the lower leg were the muscles with the highest fat infiltration. Moreover, a weak genotype-muscle MRI association was found in which tibialis posterior was more involved in patients with the most frequent mutation, i.e., C.2228T >  C (p.M743T) mutation; however, this finding may be related to longer disease duration.

Quantitation of sialylation status by lectin immunofluorescence in muscle biopsies of patients with GNE myopathy: assessing response to therapy

2017 ◽  
Vol 27 ◽  
pp. S150
Author(s):  
M. Huizing ◽  
P. Leoyklang ◽  
B. Class ◽  
C. Ciccone ◽  
A. Glowacki ◽  
...  
Keyword(s):  
Response To Therapy ◽  
Gne Myopathy ◽  
Muscle Biopsies

GNE myopathy: Don’t sleep on the platelets

2021 ◽  
Author(s):  
Grayson Beecher ◽  
Teerin Liewluck
Keyword(s):  
Gne Myopathy

scholarly journals GNE Myopathy: Two Clusters with History and Several Founder Mutations

2015 ◽  
Vol 2 (s2) ◽  
pp. S73-S76 ◽  
Author(s):  
Zohar Argov ◽  
Stella Mitrani Rosenbaum
Keyword(s):  
Founder Mutations ◽  
Gne Myopathy

NovelGNEcompound heterozygous mutations in a GNE myopathy patient

2013 ◽  
Vol 48 (4) ◽  
pp. 594-598 ◽  
Author(s):  
Huaying Cai ◽  
Ichiro Yabe ◽  
Shinichi Shirai ◽  
Hiroaki Nishimura ◽  
Makoto Hirotani ◽  
...  
Keyword(s):  
Gne Myopathy

scholarly journals GNE Myopathy: Etiology, Diagnosis, and Therapeutic Challenges

2018 ◽  
Vol 15 (4) ◽  
pp. 900-914 ◽  
Author(s):  
Nuria Carrillo ◽  
May C. Malicdan ◽  
Marjan Huizing
Keyword(s):  
Gne Myopathy

scholarly journals A Case of GNE Myopathy Presenting a Rapid Deterioration during Pregnancy

2013 ◽  
Vol 9 (4) ◽  
pp. 280 ◽  
Author(s):  
Jae Eun Sim ◽  
Ji-Man Hong ◽  
Gyoung Im Suh ◽  
Hanna Cho ◽  
Kyung Seok Park ◽  
...  
Keyword(s):  
Gne Myopathy ◽  
Rapid Deterioration

GNE myopathy in the bedouin population of Kuwait: Genetics, prevalence, and clinical description

2018 ◽  
Vol 58 (5) ◽  
pp. 700-707 ◽  
Author(s):  
Hadil Alrohaif ◽  
Oksana Pogoryelova ◽  
Abdullah Al-Ajmi ◽  
Lulwa A. Aljeryan ◽  
Nuwayer H. Alrashidi ◽  
...  
Keyword(s):  
Gne Myopathy ◽  
Clinical Description

Extra-muscular manifestations in GNE myopathy patients: A nationwide repository questionnaire survey in Japan

2021 ◽  
pp. 107057
Author(s):  
Wakako Yoshioka ◽  
Reiko Shimizu ◽  
Yuji Takahashi ◽  
Yuriko Oda ◽  
Sumiko Yoshida ◽  
...  
Keyword(s):  
Questionnaire Survey ◽  
Gne Myopathy
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