Results 81 to 90 of about 3,329 (204)

Known pathogenic gene variants and new candidates detected in sudden unexpected infant death using whole genome sequencing

American Journal of Medical Genetics Part A, Volume 194, Issue 11, November 2024.
Abstract The purpose of this study is to gain insights into potential genetic factors contributing to the infant's vulnerability to Sudden Unexpected Infant Death (SUID). Whole Genome Sequencing (WGS) was performed on 144 infants that succumbed to SUID, and 573 healthy adults.
Angela M. Bard, Lindsay V. Clark, Erdal Cosgun, Kimberly A. Aldinger, Andrew Timms, Lely A. Quina, Juan M. Lavista Ferres, David Jardine, Elisabeth A. Haas, Tatiana M. Becker, Chelsea M. Pagan, Avni Santani, Diego Martinez, Soumitra Barua, Zakkary McNutt, Addie Nesbitt, Edwin A. Mitchell, Jan‐Marino Ramirez   +17 more
wiley   +1 more source

Myotonia congenita and myoadenylate deaminase deficiency: case report

Arquivos de Neuro-Psiquiatria, 2003
Approximately 1-2% of the population has a deficiency of the enzyme myoadenylate deaminase. Early reports suggested that patients with myoadenylate deaminase deficiency had various forms of myalgia, and exercise intolerance.
Scola Rosana Herminia, Iwamoto Fabio Massaiti, Camargo Carlos Henrique, Arruda Walter Oleschko, Werneck Lineu Cesar   +4 more
doaj  

A mechanical engineer cannot open his fist - myotonia congenita [PDF]

, 2017
Myotonia congenita is a rare congenital neurological disorder, not encountered by many physicians in their clinical practice. Two types are described Thomsen and Becker.
Bhavana, Raman, Rao, Bhavana Nagabhushana   +1 more
core   +2 more sources

In a cohort of 961 clinically suspected Duchenne muscular dystrophy patients, 105 were diagnosed to have other muscular dystrophies (OMDs), with LGMD2E (variant SGCB c.544A>C) being the most common

Molecular Genetics &Genomic Medicine, Volume 12, Issue 11, November 2024.
All the LGMDs molecularly confirmed in this study were the ones clinically suspected to be DMD/BMD. Here in this study, we have attempted to understand age at onset in the patients, could be a differentiating factor to distinguish DMD/BMD from other muscular dystrophies.
Priya Karthikeyan, Shalini H. Kumar, Arati Khanna‐Gupta, Lakshmi Bremadesam Raman   +3 more
wiley   +1 more source

Moroccan consanguineous family with Becker myotonia and review

Annals of Indian Academy of Neurology, 2011
Myotonia congenita is a genetic muscle disorder characterized by clinical and electrical myotonia, muscle hypertrophy, and stiffness. It is inherited as either autosomal-dominant or -recessive, known as Thomsen and Becker diseases, respectively.
Ilham Ratbi, Siham Chafai Elalaoui, Adela Escudero, Yamina Kriouile, Jesus Molano, Abdelaziz Sefiani   +5 more
doaj   +1 more source

Clinical Diversity of SCN4A-Mutation-Associated Skeletal Muscle Sodium Channelopathy [PDF]

, 2009
BACKGROUND AND PURPOSE: Mutations of the skeletal muscle sodium channel gene SCN4A, which is located on chromosome 17q23-25, are associated with various neuromuscular disorders that are labeled collectively as skeletal muscle sodium channelopathy.
Bulman, Cannon, Dae-Seong Kim, George, George, Hyang-Sook Kim, Kyu-Hyun Park, Lerche, McClatchey, McClatchey, Mitrović, Moon, Orrell, Plassart, Ptacek, Ptácek, Rosenfeld, Rüdel, Sang-Chan Lee, Schoser, Stenson, Trip, Tsujino, Wu, Yeong-Eun Park, Young-Chul Choi   +25 more
core   +2 more sources

Physiology and Pathophysiology of CLC-1: Mechanisms of a Chloride Channel Disease, Myotonia [PDF]

, 2011
The CLC-1 chloride channel, a member of the CLC-channel/transporter family, plays important roles for the physiological functions of skeletal muscles. The opening of this chloride channel is voltage dependent and is also regulated by protons and chloride
Chen, Tsung-Yu, Tang, Chih-Yung
core   +4 more sources

Myotonia congenita in a Greek cohort: Genotype spectrum and impact of the CLCN1:c.501C > G variant as a genetic modifier

Muscle &Nerve, Volume 70, Issue 2, Page 240-247, August 2024.
Abstract Introduction/Aims Myotonia congenita (MC) is the most common hereditary channelopathy in humans. Characterized by muscle stiffness, MC may be transmitted as either an autosomal dominant (Thomsen) or a recessive (Becker) disorder. MC is caused by variants in the voltage‐gated chloride channel 1 (CLCN1) gene, important for the normal ...
Nikolaos M. Marinakis, Maria Svingou, Giorgos‐Konstantinos Papadimas, Constantinos Papadopoulos, Elisabeth Chroni, Roser Pons, Evangelos Pavlou, Ioannis Sarmas, Konstantina Kosma, Paraskevi Apostolou, Christalena Sofocleous, Joanne Traeger‐Synodinos, Kyriaki Kekou   +12 more
wiley   +1 more source

The impact of molecular biology on clinical neurology. [PDF]

, 2001
Advances in molecular biology have increased our understanding of both inherited and sporadic forms of neurological disease. In this review, the impact of these advances is discussed in relation to specific neurological conditions.
Ho, SL, Mak, W
core  

Characterization of ClC‐1 chloride channels in zebrafish: a new model to study myotonia

The Journal of Physiology, Volume 602, Issue 16, Page 3975-3994, 15 August 2024.
Abstract figure legend Zebrafish clc‐1a and clc‐1b orthologues were identified and cloned. mRNA and protein expression were detected mostly in muscle. Functional properties were studied in Xenopus oocytes, and they showed similitudes, but also some differences compared with the human counterpart. A crispant model was generated and studied analysing its
Héctor Gaitán‐Peñas, Carla Pérez‐Rius, Ashraf Muhaisen, Aida Castellanos, Ekaitz Errasti‐Murugarren, Alejandro Barrallo‐Gimeno, Francisca Alcaraz‐Pérez, Raúl Estévez   +7 more
wiley   +1 more source