Results 81 to 90 of about 3,302 (205)
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 +5 more
doaj +1 more source
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 +17 more
wiley +1 more source
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 +3 more
wiley +1 more source
Congenital muscular dystrophy: a clinical report on 17 patients [PDF]
, 1991 We concur with the idea that congenital muscular dystrophy (CMD) is a distinct clinical entity, and report 17 patients (2 negroes and 15 whites; 12M and 5 F; median age 6 years, range 1 to 24 years) with genetic, clinical, laboratorial ...
Ferreira Neto, A. +5 more
core +1 more source
Phosphorylation and protonation of neighboring MiRP2 sites: function and pathophysiology of MiRP2-Kv3.4 potassium channels in periodic paralysis. [PDF]
, 2006 MinK-related peptide 2 (MiRP2) and Kv3.4 subunits assemble in skeletal muscle to create subthreshold, voltage-gated potassium channels. MiRP2 acts on Kv3.4 to shift the voltage dependence of activation, speed recovery from inactivation, suppress ...
Abbott, Geoffrey W +2 more
core +1 more source
ClC-1 chloride channels: state-of-the-art research and future challenges
Frontiers in Cellular Neuroscience, 2015 The voltage-dependent ClC-1 chloride channel belongs to the CLC channel/transporter family. It is a homodimer comprising two individual pores which can operate independently or simultaneously according to two gating modes, the fast and the slow gate of ...
Paola eImbrici +5 more
doaj +1 more source
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 +1 more
core +2 more sources
Myotonic Disorders in an EMG Lab Over 12 Years
Pediatric Neurology Briefs, 2012 Researchers at the EMG Laboratory, Boston Children's Hospital, MA assessed the spectrum of disorders associated with electrophysiologic myotonia in a pediatric electromyography laboratory.
J Gordon Millichap
doaj +1 more source
The spectrum of myopathies in the city of São Paulo
Arquivos de Neuro-Psiquiatria, 1976 A review of all myopathic patients treated at the Neurologic Clinic of the Medical School of the University of São Paulo during the past 15 years is reported.
José A. Levy +4 more
doaj +1 more source
Muscle channelopathies and electrophysiological approach
Annals of Indian Academy of Neurology, 2008 Myotonic syndromes and periodic paralyses are rare disorders of skeletal muscle characterized mainly by muscle stiffness or episodic attacks of weakness.
Cherian Ajith +2 more
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