Direct Haplotyping-Based Noninvasive Prenatal Test for Myotonic Dystrophy Type 1 with Large CTG Expansion [PDF]
, 2020 Hyukmin Lee +8 more
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Journal of Cardiovascular Development and DiseaseMyotonic dystrophy is a hereditary disorder with systemic involvement. The Italian Neuro-Cardiology Network-“Rete delle Neurocardiologie” (INCN-RNC) is a unique collaborative experience involving neurology units combined with cardio-arrhythmology units ...
Vincenzo Russo +12 more
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Transcriptome Alterations in Myotonic Dystrophy Frontal Cortex [PDF]
, 2020 Brittney A. Otero +10 more
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The expansion of 300 CTG repeats in myotonic dystrophy transgenic mice does not induce sensory or motor neuropathy [PDF]
, 2018 Summary: Although many studies have been carried out to verify the involvement of the peripheral nervous system (PNS) in dystrophia myotonica (DM1) patients, the results remain controversial. The generation of DM1 transgenic mice displaying the human DM1
Barakat-Walter, I. +5 more
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Structure and regulation of the myotonic dystrophy kinase-related Cdc42-binding kinase [PDF]
, 2023 Linda Truebestein +5 more
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Two Cases of Endometrial Cancer in Twin Sisters with Myotonic Dystrophy
Case Reports in Obstetrics and Gynecology, 2016 We describe two cases of endometrial cancer (EC) occurring in nulligravid twin sisters with myotonic dystrophy. Both tested negative for Lynch syndrome and both were treated with laparoscopic hysterectomy with bilateral salpingooophorectomy and adjuvant ...
Ezra Y. Koh, Paul J. M. van Kesteren
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Physiology of respiratory disturbances in muscular dystrophies [PDF]
, 2016 Muscular dystrophy is a group of inherited myopathies characterised by progressive skeletal muscle wasting, including of the respiratory muscles. Respiratory failure, i.e.
Aliverti, Andrea +1 more
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Aberrant Myokine Signaling in Congenital Myotonic Dystrophy
Cell Reports, 2017 Summary: Myotonic dystrophy types 1 (DM1) and 2 (DM2) are dominantly inherited neuromuscular disorders caused by a toxic gain of function of expanded CUG and CCUG repeats, respectively.
Masayuki Nakamori +8 more
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Aberrant splicing and expression of the non muscle myosin heavy-chain gene MYH14 in DM1 muscle tissues [PDF]
, 2012 Myotonic dystrophy type 1 (DM1) is a complex multisystemic disorder caused by an expansion of a CTG repeat located at the 3' untranslated region (UTR) of DMPK on chromosome 19q13.3.
Angelini, C +10 more
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117th ENMC Workshop: Ventilatory Support in Congenital Neuromuscular Disorders — Congenital Myopathies, Congenital Muscular Dystrophies, Congenital Myotonic Dystrophy and SMA (II) 4–6 April 2003, Naarden, The Netherlands [PDF]
, 2003 Carina Wallgren‐Pettersson +3 more
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