Results 131 to 140 of about 48,192 (208)

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  

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

Microduplication 10q24.31 in a Spanish girl with scoliosis and myopathy:the critical role of LBX [PDF]

, 2014
Calleja-Perez, Beatriz, Castellanos, Maria Del Carmen, Cigudosa, Juan C., Dietrich, Susanne, Fernandez-Jaen, Alberto, Fernandez-Mayoralas, Daniel Martin, Fernandez-Perrone, Ana Laura, Lopez-Martin, Sara, Suela, Javier, Wotton, Karl R.   +9 more
core   +2 more sources

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  

<i>FXR1</i>-related congenital myopathy: expansion of the clinical and genetic spectrum. [PDF]

J Med Genet, 2022
Mroczek M, Longman C, Farrugia ME, Kapetanovic Garcia S, Ardicli D, Topaloglu H, Hernández-Laín A, Orhan D, Alikasifoglu M, Duff J, Specht S, Nowak K, Ravenscroft G, Chao K, Valivullah Z, Donkervoort S, Saade D, Bönnemann C, Straub V, Yoon G.   +19 more
europepmc   +1 more source

Congenital myopathies

Congenital myopathies (CMs) conform a large group of heterogeneous NMD with an ever-growing genotypic-phenotypic spectrum. CMs are caused by variants in at least 27 genes that code mostly for muscle proteins. The prevalence of CMs is 1.5 per 100,000, while the prevalence in the child population is higher.
openaire   +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

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

<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