Results 21 to 30 of about 7,618,843 (150)

OXPHOS complex deficiency in congenital myopathy: A systematic review. [PDF]

Eur J Clin Invest
This systematic review assessed oxidative phosphorylation (OXPHOS) complex dysfunction in genetically confirmed congenital myopathies (CM). Among 5841 studies screened, 23 publications, comprising 45 CM cases, met the inclusion criteria. OXPHOS dysfunction was identified in 78% of cases, particularly where enzymology was performed, with RYR1 most ...
du Preez MJ, Schoonen M, Williams ME, Bisschoff M, van der Westhuizen FH.   +4 more
europepmc   +2 more sources

A case of congenital fiber‐type disproportion syndrome presenting dilated cardiomyopathy with ACTA1 mutation

Molecular Genetics & Genomic Medicine, 2022
Background Actin, alpha, skeletal muscle 1 (ACTA1) is one of the causative genes of nemaline myopathy (NM) and congenital fiber‐type disproportion (CFTD).
Ayumi Matsumoto, Hidetoshi Tsuda, Sadahiro Furui, Masako Kawada‐Nagashima, Tatsuya Anzai, Mitsuru Seki, Kazuhisa Watanabe, Kazuhiro Muramatsu, Hitoshi Osaka, Sadahiko Iwamoto, Ichizo Nishino, Takanori Yamagata   +11 more
doaj   +1 more source

Genetic and Structural Variations in Czech Patients With Congenital Myopathies. [PDF]

Clin Genet
We present 79 unrelated patients with genetically confirmed congenital myopathy (CM). A total of 113 mutant alleles carrying 97 different variants with a presumed pathogenic effect were identified. All but five variants were small scale. The mode of inheritance was autosomal dominant (AD) (44.3%), autosomal recessive (AR) (43.0%), and X‐linked (XL) (12.
Zídková J, Lauerová B, Mensová L, Kramářová T, Kopčilová J, Réblová K, Soukup Vodičková M, Hujňáková M, Haberlová J, Rohlenová M, Mazanec R, Šoukalová J, Gaillyová R, Vyhnálková E, Balaščaková M, Danhofer P, Juříková L, Grečmalová D, Gřegořová A, Plevová P, Langová M, Honzík T, Magner M, Klincová M, Solařová P, Šenkeříková M, Fajkusová L.   +26 more
europepmc   +2 more sources

l-Carnitine ameliorates congenital myopathy in a tropomyosin 3 de novo mutation transgenic zebrafish

Journal of Biomedical Science, 2021
Background Congenital myopathy (CM) is a group of clinically and genetically heterogeneous muscle disorders, characterized by muscle weakness and hypotonia from birth. Currently, no definite treatment exists for CM.
Po-Jui Hsu, Horng-Dar Wang, Yung-Che Tseng, Shao-Wei Pan, Bonifasius Putera Sampurna, Yuh-Jyh Jong, Chiou-Hwa Yuh   +6 more
doaj   +1 more source

KLHL40 mutation associated with severe nemaline myopathy, fetal akinesia, and cleft palate

Journal of Pediatric Neurosciences, 2019
The congenital myopathies are a heterogeneous group of inherited neuromuscular disorders characterized by early-onset muscular weakness, hypotonia, and developmental delay.
Kapil K Avasthi, Sarita Agarwal, Inusha Panigrahi   +2 more
doaj   +1 more source

The Histopathologic Examination of a Second Muscle Biopsy Specimen at a Later Date may Sometimes be the Best Approach to Make a Differential Diagnosis in Neuromuscular Disorders

Türk Patoloji Dergisi, 2022
Dear Editor, Neuromuscular disorders still keep their mystery 1. Considering that cases with very mild symptoms cannot be diagnosed at all, it is almost impossible to know the true prevalence of these diseases 2.
Gulden DINIZ, Berk OZYILMAZ, Sarenur GOKBEN   +2 more
doaj   +1 more source

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

Ryanodine receptor 1-related disorders: an historical perspective and proposal for a unified nomenclature

Skeletal Muscle, 2020
The RYR1 gene, which encodes the sarcoplasmic reticulum calcium release channel or type 1 ryanodine receptor (RyR1) of skeletal muscle, was sequenced in 1988 and RYR1 variations that impair calcium homeostasis and increase susceptibility to malignant ...
Tokunbor A. Lawal, Joshua J. Todd, Jessica W. Witherspoon, Carsten G. Bönnemann, James J. Dowling, Susan L. Hamilton, Katherine G. Meilleur, Robert T. Dirksen   +7 more
doaj   +1 more source

A pathogenic mechanism associated with myopathies and structural birth defects involves TPM2-directed myogenesis

JCI Insight, 2022
Nemaline myopathy (NM) is the most common congenital myopathy, characterized by extreme weakness of the respiratory, limb, and facial muscles. Pathogenic variants in Tropomyosin 2 (TPM2), which encodes a skeletal muscle–specific actin binding protein ...
Jennifer McAdow, Shuo Yang, Tiffany Ou, Gary Huang, Matthew B. Dobbs, Christina A. Gurnett, Michael J. Greenberg, Aaron N. Johnson   +7 more
doaj   +1 more source

Core myopathy in two siblings with a biallelic variant in the CACNA1S gene-A case series study. [PDF]

Clin Case Rep
Key Clinical Message Homozygous variants of Calcium Voltage‐Gated Channel Subunit Alpha1 S (CACNA1S) gene mutation were previously identified as causes of periodic paralysis and congenital early‐onset myopathy, while it could be manifested as a late‐onset congenital core myopathy.
Khoeini T, Kariminejad A, Nilipour Y, Ariaei A, Najmabadi H, Arabshahi M, Faraji Zonooz M, Haghi Ashtiani B.   +7 more
europepmc   +2 more sources