Results 11 to 20 of about 924,459 (214)

Bailey-Bloch Congenital Myopathy in Brazilian Patients: A Very Rare Myopathy with Malignant Hyperthermia Susceptibility [PDF]

Brain Sciences, 2023
Background: Congenital myopathy-13 (CMYP13), also known as Bailey-Bloch congenital myopathy and Native American myopathy (NAM), is a condition caused by biallelic missense pathogenic variants in STAC3, which encodes an important protein necessary for the
Paulo Ribeiro Nóbrega, Erlane Ribeiro, Andre Luiz Santos Pessoa   +2 more
exaly   +5 more sources

A Systematic Review and Meta-Analysis of the Prevalence of Congenital Myopathy [PDF]

Frontiers in Neurology, 2021
Background: Congenital myopathy constitutes a heterogeneous group of orphan diseases that are mainly classified on the basis of muscle biopsy findings. This study aims to estimate the prevalence of congenital myopathy through a systematic review and meta-
Kun Huang, Kun Huang, Fang-Fang Bi, Huan Yang   +3 more
doaj   +3 more sources

Exome sequencing in undiagnosed congenital myopathy reveals new genes and refines genes–phenotypes correlations [PDF]

Genome Medicine
Background Congenital myopathies are severe genetic diseases with a strong impact on patient autonomy and often on survival. A large number of patients do not have a genetic diagnosis, precluding genetic counseling and appropriate clinical management ...
Yvan de Feraudy, Marie Vandroux, Norma Beatriz Romero, Raphaël Schneider, Safaa Saker, Anne Boland, Jean-François Deleuze, Valérie Biancalana, Johann Böhm, Jocelyn Laporte   +9 more
doaj   +3 more sources

Dihydropyridine Receptor Congenital Myopathy In A Consangineous Turkish Family

Journal of Neuromuscular Diseases, 2019
Dihydropyridine receptor congenital myopathy is a recently described congenital myopathy caused by dominant or recessive mutations in the CACNA1S gene. To date, only 11 cases from 7 families were described in a single report.
U. Yiş, S. Hiz, S. Güneş, G. Diniz, F. Baydan, A. Töpf, Ece Sonmezler, Hanns Lochmüller, R. Horvath, Y. Oktay   +9 more
semanticscholar   +8 more sources

Bone Quality in Patients with a Congenital Myopathy: A Scoping Review. [PDF]

J Neuromuscul Dis, 2023
Background: Congenital myopathies are rare neuromuscular disorders presenting with a wide spectrum of clinical features, including long bone fractures (LBFs) that negatively influence functional prognosis, quality of life and survival.
Bouman K, Dittrich ATM, Groothuis JT, van Engelen BGM, Janssen MCH, Voermans NC, Draaisma JMT, Erasmus CE.   +7 more
europepmc   +2 more sources

Abnormal myosin post-translational modifications and ATP turnover time associated with human congenital myopathy-related RYR1 mutations. [PDF]

Acta Physiol (Oxf), 2023
Conditions related to mutations in the gene encoding the skeletal muscle ryanodine receptor 1 (RYR1) are genetic muscle disorders and include congenital myopathies with permanent weakness, as well as episodic phenotypes such as rhabdomyolysis/myalgia ...
Sonne A, Antonovic AK, Melhedegaard E, Akter F, Andersen JL, Jungbluth H, Witting N, Vissing J, Zanoteli E, Fornili A, Ochala J.   +10 more
europepmc   +2 more sources

Biallelic Pathogenic Variants in TNNT3 Associated With Congenital Myopathy. [PDF]

Neurol Genet, 2021
Objective Pathogenic variants in TNNT3, the gene encoding fast skeletal muscle troponin T, were first described in autosomal dominant distal arthrogryposis type 2B2. Recently, a homozygous splice site variant, c.681+1G>A, was identified in a patient with
Calame DG, Fatih J, Herman I, Akdemir ZC, Du H, Jhangiani SN, Gibbs RA, Marafi D, Pehlivan D, Posey JE, Lotze T, Mancias P, Bhattacharjee MB, Lupski JR.   +13 more
europepmc   +2 more sources

Congenital Inflammatory Myopathy

Pediatric Neurology Briefs, 1990
Three patients with congenital inflammatory myopathy are reported from the Montreal Children's Hospital and Neurological Institute McGill University, Montreal, Canada. Seven additional cases are reviewed from the literature.
J Gordon Millichap
doaj   +2 more sources

MYBPC1-associated congenital myopathy with tremor: further delineation of the clinical and pathological phenotype in the first Italian case [PDF]

Frontiers in Genetics
The MYBPC1 gene, mapping to chromosome 12q23.2, encodes the slow myosin binding protein-C (sMyBP-C), a sarcomeric accessory protein, expressed mainly in slow skeletal muscle fibers, that aids in the regulation of actomyosin cross-bridges and provides ...
Daniele Velardo, Claudia Alberti, Delia Gagliardi, Roberto Del Bo, Patrizia Ciscato, Laura Napoli, Simona Zanotti, Michela Ripolone, Michele Giovanni Croce, Giuseppe Cosentino, Giuseppe Cosentino, Gabriele Tumminello, Marco Locatelli, Marco Locatelli, Giacomo Pietro Comi, Giacomo Pietro Comi, Stefania Corti, Stefania Corti, Sabrina Ravaglia, Dario Ronchi, Dario Ronchi   +20 more
doaj   +2 more sources

FOXK2 in skeletal muscle development: a new pathogenic gene for congenital myopathy with ptosis [PDF]

EMBO Molecular Medicine
Congenital ptosis, a genetic disorder involving levator palpebrae muscle dysfunction, is often associated with congenital myopathy. The genetic causes of this condition remain poorly understood.
Peixuan Wu, Nan Song, Yang Xiang, Zhe Tao, Bing Mao, Ruochen Guo, Xin Wang, Dan Wu, Zhenzhen Zhang, Xin Chen, Duan Ma, Tianyu Zhang, Bingtao Hao, Jing Ma   +13 more
doaj   +2 more sources