Results 21 to 30 of about 2,672 (146)

Unraveling the Molecular Basis of the Dystrophic Process in Limb-Girdle Muscular Dystrophy LGMD-R12 by Differential Gene Expression Profiles in Diseased and Healthy Muscles

Cells, 2022
Limb-girdle muscular dystrophy R12 (LGMD-R12) is caused by two mutations in anoctamin-5 (ANO5). Our aim was to identify genes and pathways that underlie LGMD-R12 and explain differences in the molecular predisposition and susceptibility between three ...
Christophe E. Depuydt, Veerle Goosens, Rekin’s Janky, Ann D’Hondt, Jan L. De Bleecker, Nathalie Noppe, Stefaan Derveaux, Dietmar R. Thal, Kristl G. Claeys   +8 more
doaj   +1 more source

<i>CRPPA</i> exon 6-9 deletion as a founder mutation in Chinese patients with dystroglycanopathy. [PDF]

Pediatr Investig
Analysis of sixteen Chinese dystroglycanopathy patients reveals a founder mutation (CRPPA exon 6–9 deletion) in 25% of cases and expands the phenotypic spectrum from severe muscle‐eye‐brain disease to limb‐girdle muscular dystrophy. ABSTRACT Importance Dystroglycanopathies (DGPs) are a group of muscular dystrophies with abnormal glycosylation of ...
Luo J, Liu Y, Song D, Yang S, Fu X, Ge L, Wei C, Cui L, Fan Y, Luo H, He Y, Xu J, Shen Q, Guo Y, Kanagawa M, Toda T, Wang J, Zhang H, Xiong H.   +18 more
europepmc   +2 more sources

A case of pseudodominant inheritance of limb-girdle muscular dystrophy caused by mutations in the CAPN3 gene

Анналы клинической и экспериментальной неврологии, 2021
Introduction. Limb-girdle muscular dystrophy (LGMD) includes more than 30 forms caused by mutations in genes located on autosomes. The most common form is calpain-3-related LGMD, with autosomal recessive inheritance pattern (OMIM 253600).
Inna V. Sharkova, Maria V. Bulakh, Liudmila А. Bessonova, Olga A. Shchagina, Elena L. Dadaly   +4 more
doaj   +1 more source

The ties that bind: functional clusters in limb-girdle muscular dystrophy

Skeletal Muscle, 2020
The limb-girdle muscular dystrophies (LGMDs) are a genetically pleiomorphic class of inherited muscle diseases that are known to share phenotypic features. Selected LGMD genetic subtypes have been studied extensively in affected humans and various animal
Elisabeth R. Barton, Christina A. Pacak, Whitney L. Stoppel, Peter B. Kang   +3 more
doaj   +1 more source

Predicting Loss of Ambulation in Limb Girdle Muscular Dystrophy R9. [PDF]

Ann Clin Transl Neurol
ABSTRACT Background Limb girdle muscular dystrophy type R9 (LGMDR9) results from biallelic variants in FKRP. There is limited data to predict loss of ambulation (LOA) among those with LGMDR9. Methods Participants in an ongoing dystroglycanopathy natural history study (NCT00313677) with FKRP variants who had achieved ambulation and were more than 3 ...
Miller CL, Coffey LN, Mockler SRH, Laubscher KM, Stephan CM, Zimmerman MB, Mathews KD.   +6 more
europepmc   +2 more sources

Disease Progression and Mutation Pattern in a Large Cohort of LGMD R1/LGMD 2A Patients from India [PDF]

Global Medical Genetics, 2021
AbstractCalpainopathy is caused by mutations in the CAPN3. There is only one clinical and genetic study of CAPN3 from India and none from South India. A total of 72 (male[M]:female [F] = 34:38) genetically confirmed probands from 72 independent families are included in this study. Consanguinity was present in 54.2%.
Valakunja H. Ganaraja, Kiran Polavarapu, Mainak Bardhan, Veeramani Preethish-Kumar, Shingavi Leena, Ram M. Anjanappa, Seena Vengalil, Saraswati Nashi, Gautham Arunachal, Swetha Gunasekaran, Dhaarini Mohan, Sanita Raju, Gopikrishnan Unnikrishnan, Akshata Huddar, Valasani Ravi-Kiran, Priya T. Thomas, Atchayaram Nalini   +16 more
openaire   +3 more sources

Clinical, pathological, imaging, and genetic characterization in a Taiwanese cohort with limb-girdle muscular dystrophy

Orphanet Journal of Rare Diseases, 2020
Background Limb-girdle muscular dystrophy (LGMD) is a genetically heterogeneous, hereditary disease characterized by limb-girdle weakness and histologically dystrophic changes.
Wen-Chen Liang, Yuh-Jyh Jong, Chien-Hua Wang, Chen-Hua Wang, Xia Tian, Wan-Zi Chen, Tzu-Min Kan, Narihiro Minami, Ichizo Nishino, Lee-Jun C. Wong   +9 more
doaj   +1 more source

Differential expression profiling between the relative normal and dystrophic muscle tissues from the same LGMD patient

Journal of Translational Medicine, 2006
Background Limb-girdle muscular dystrophy (LGMD) is a group of heterogeneous muscular disorders with autosomal dominant and recessive inheritance, in which the pelvic or shoulder girdle musculature is predominantly or primarily involved.
Yang Wei, Tai Sheng, Xiao Xingjun, Zhao Xinyi, Chen Dazhi, Ye Jianwei, Zhang Yong, Zhu Dahai   +7 more
doaj   +1 more source

Evaluation of quantitative muscle MRI and an intelligent phenotyping housing system as advanced phenotyping methods in a mouse model of calpain 3‐deficient muscular dystrophy

Animal Models and Experimental Medicine, EarlyView.
We applied quantitative MRI of the lower limb and automated home‐cage phenotyping to a mouse model of calpainopathy to detect early disease changes. At 15 months, calpain 3‐deficient mice showed increased water T2 values correlating with immune cell infiltration in the soleus and gastrocnemius muscles, while assessment of motor activity revealed only ...
Nicolina Südkamp, Marlena Rohm, Gabriele Russo, Xavier Helluy, Abdulhadi Kocabas, Martijn Froeling, Felix Kleefeld, Denise Manahan‐Vaughan, Tobias Ruck, Frank Jacobsen, Matthias Vorgerd, Johannes Forsting, Lara Schlaffke   +12 more
wiley   +1 more source

Machine learning-based short-term solar power forecasting: a comparison between regression and classification approaches using extensive Australian dataset

Sustainable Energy Research
Solar energy production is an intermittent process that is affected by weather and climate conditions. This can lead to unstable and fluctuating electricity generation, which can cause financial losses and damage to the power grid.
H. I. Aouidad, A. Bouhelal
doaj   +1 more source