Results 71 to 80 of about 12,338 (187)

Myotonic Dystrophy: An Anaesthetic Dilemma

Indian Journal of Anaesthesia, 2009
Myotonic dystrophy (dystrophia myotonica, DM) is a chronic, slowly progressing, highly variable inherited multisystemic disease that can manifest at any age from birth to old age.
N Gupta, K N Saxena, Asish Kumar Panda, Raktima Anand, Anil Mishra   +4 more
doaj  

N‐WASP is required for Amphiphysin‐2/BIN1‐dependent nuclear positioning and triad organization in skeletal muscle and is involved in the pathophysiology of centronuclear myopathy

EMBO Molecular Medicine, 2014
Mutations in amphiphysin‐2/BIN1, dynamin 2, and myotubularin are associated with centronuclear myopathy (CNM), a muscle disorder characterized by myofibers with atypical central nuclear positioning and abnormal triads.
Sestina Falcone, William Roman, Karim Hnia, Vincent Gache, Nathalie Didier, Jeanne Lainé, Frederic Auradé, Isabelle Marty, Ichizo Nishino, Nicolas Charlet‐Berguerand, Norma Beatriz Romero, Giovanna Marazzi, David Sassoon, Jocelyn Laporte, Edgar R Gomes   +14 more
doaj   +1 more source

Generation of a lymphoblastoid-derived induced pluripotent stem cell line (CBRCULi015-A) from a patient with congenital myotonic dystrophy

Stem Cell Research
Congenital myotonic dystrophy (CDM) is a genetic disease caused by an abnormally long CTG repeat expansion in the DMPK gene, which generally increases in size following intergenerational transmission.
Thiéry De Serres-Bérard, Dominic Jauvin, Valérie Pouliot, Jack Puymirat, Mohamed Chahine   +4 more
doaj   +1 more source

Evaluating the performance of ChatGPT in responding to myotonic dystrophy type 1 patient inquiries: a specialist physician-based study

BMC Neurology
Background Advancements in artificial intelligence have led to the widespread use of large language models such as ChatGPT in healthcare communication.
Gülşah Çelik, Hanife Hale Hekim, Meral Bilgilisoy Filiz, Naciye Füsun Toraman   +3 more
doaj   +1 more source

CONGENITAL MYOTONIC DYSTROPHY – CASE REPORT

Zdravniški Vestnik, 2001
Background. Myotonic dystrophy is inherited as an autosomal dominant trait. It is characterized by myotonia, myopathy of voluntary and involuntary muscles, frontal baldness in men, cardiac conduction abnormalities, catharacts, intellectual deterioration ...
David Neubauer, Breda Šušteršič, Darja Paro Panjan, Borut Peterlin, Janez Zidar   +4 more
doaj  

Myotonic Dystrophy [PDF]

Proceedings of the Royal Society of Medicine, 1955
openaire   +2 more sources

Undiagnosed Maternal Myotonic Dystrophy Type 1 Revealed by Congenital Myotonic Dystrophy in the Neonate. [PDF]

Cureus
Suzui R, Wada I, Matsubara M, Kataoka D.
europepmc   +1 more source

Multidimensional Measurements of Dysarthria in Myotonic Dystrophy Type 1. [PDF]

Int J Lang Commun Disord
Hellemond SV, Voet N, Kroon R, Sahin Y, Karnebeek I, Nijkamp M, Knuijt S.   +6 more
europepmc   +1 more source

Role of Otolaryngology in Monitoring the Progression of Myotonic Dystrophy: A Case Report. [PDF]

Cureus
Pudi V, Shah A.
europepmc   +1 more source

Sex Differences in Cardiac Involvement in Adults With Myotonic Dystrophy Type 1: A Multicenter Study. [PDF]

JACC Adv
Alen A, Muñoz C, Soriano-Amores M, de Frutos F, Báez-Ferrer N, Peña-Peña ML, Villacorta E, Ripoll-Vera T, Zorio E, Gimeno AM, Bermúdez-Jiménez J, Limeres J, Tiron C, Martínez-Álvarez E, Cabrera-Romero E, García-Pavía P, Espinosa MA, Piqueras J, García-Hernández S, Palomino-Doza J, Moliner-Abós C, Moris G, Carrillo-Mora LM, Syrris P, Alvarez-Velasco R, Gimeno JR, Lorca R.   +26 more
europepmc   +1 more source