Results 141 to 150 of about 38,417 (217)

Perioperative anaesthesia management in a parturient with arthrogryposis multiplex congenital posted for caesarean delivery [PDF]

Journal of Krishna Institute of Medical Sciences University
Arthrogryposis multiplex congenital is usually associated with multiple congenital abnormalities, including skeletal deformities, congenital heart disease and sometimes alterations of the respiratory and genitourinary systems.
Sangharsh S, Sushama T, Sanyogita N
doaj  

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

Acta Physiol (Oxf), 2023
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   +1 more source

Nemaline myopathy: A report of four cases

Annals of Indian Academy of Neurology, 2007
Nemaline myopathies are a group of genetically determined (autosomal dominant/recessive) congenital myopathies characterized by the formation of nemaline rods within muscle fibers.
Deepti A, Gayathri N, Veerendra Kumar M, Shankar Susarla   +3 more
doaj  

Congenital Myopathy as a Phenotypic Expression of <i>CACNA1S</i> Gene Mutation: Case Report and Systematic Review of the Literature. [PDF]

Genes (Basel), 2023
Marinella G, Orsini A, Scacciati M, Costa E, Santangelo A, Astrea G, Frosini S, Pasquariello R, Rubegni A, Sgherri G, Corsi M, Bonuccelli A, Battini R.   +12 more
europepmc   +1 more source

Congenital myopathy associated with a novel mutation in MEGF10 gene, myofibrillar alteration and progressive course. [PDF]

Acta Myol, 2022
Croci C, Traverso M, Baratto S, Iacomino M, Pedemonte M, Caroli F, Scala M, Bruno C, Fiorillo C.   +8 more
europepmc   +1 more source

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

Hum Mutat
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   +1 more source

Hypercapnic respiratory failure in pregnancy: A rare presentation of a congenital myopathy. [PDF]

Obstet Med
Earl N, Chivers G, Davidson P.
europepmc   +1 more source

<i>ACTA1</i>-related congenital myopathy in a neonate: a case report and literature review. [PDF]

Front Pediatr
Zhao L, Deng F, Cai B.
europepmc   +1 more source

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

Eur J Clin Invest
du Preez MJ, Schoonen M, Williams ME, Bisschoff M, van der Westhuizen FH.   +4 more
europepmc   +1 more source

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

Neurol Genet, 2021
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   +1 more source