Mild Late-Onset Sensory Neuropathy Associated with Heterozygous Missense GDAP1 Variants
Case Reports in Medicine, 2022 This study presents the clinical and electrophysiological findings of four subjects with a pathogenic heterozygous GDAP1 variant causing Charcot–Marie–Tooth disease 2K (CMT2K) and one additional subject with an uncertain GDAP1 variant and clinical ...
Nivedita U. Jerath
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GJB1 Gene Analysis in Two Extended Families with X-Linked Charcot-Marie-Tooth Disease
Case Reports in Neurology, 2021 X-linked Charcot-Marie-Tooth (CMT) disease type I (CMTX1) is the second most frequent type of CMT disease caused by pathogenic variants in the GJB1 gene.
Sabine Kovale +7 more
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Pathological classification of equine recurrent laryngeal neuropathy [PDF]
, 2018 Recurrent Laryngeal Neuropathy (RLN) is a highly prevalent and predominantly left‐sided, degenerative disorder of the recurrent laryngeal nerves (RLn) of tall horses, that causes inspiratory stridor at exercise because of intrinsic laryngeal muscle ...
Draper, A C E, Piercy, R J
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Mitochondrial dynamics–fusion, fission, movement, and mitophagy–in neurodegenerative diseases [PDF]
, 2009 Neurons are metabolically active cells with high energy demands at locations distant from the cell body. As a result, these cells are particularly dependent on mitochondrial function, as reflected by the observation that diseases of mitochondrial ...
Alexander +42 more
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Dynamin 2 in Charcot-Marie-Tooth Disease [PDF]
, 2012 Charcot-Marie-Tooth disease (CMT) is an inherited neuronal disorder, and is induced by mutations of various genes associated with intracellular membrane traffic and cytoskeleton.
Takei, Kohji, Tanabe, Kenji
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Rehabilitation interventions for foot drop in neuromuscular disease [PDF]
, 2009 "Foot drop" or "Floppy foot drop" is the term commonly used to describe weakness or contracture of the muscles around the ankle joint.
Brumett +33 more
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Restoring mitofusin balance prevents axonal degeneration in a Charcot-Marie-Tooth type 2A model [PDF]
, 2019 Mitofusin-2 (MFN2) is a mitochondrial outer-membrane protein that plays a pivotal role in mitochondrial dynamics in most tissues, yet mutations in MFN2, which cause Charcot-Marie-Tooth disease type 2A (CMT2A), primarily affect the nervous system.
A.K.M.G. Muhammad +23 more
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Nerve damage induced skeletal muscle atrophy is associated with increased accumulation of intramuscular glucose and polyol pathway intermediates [PDF]
, 2020 Perturbations in skeletal muscle metabolism have been reported for a variety of neuromuscular diseases. However, the role of metabolism after constriction injury to a nerve and the associated muscle atrophy is unclear.
Afzal, Shoaib +3 more
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Communications Biology, 2022 GDAP1 mutations effect Charcot-Marie-Tooth disease 4A by inhibiting the pyruvate dehydrogenase complex and restricting mitochondrial localization of dynamin-related protein 1 through alterations of the actin cytoskeleton.
Christina Wolf +22 more
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Charcot Marie Tooth Disease Type 1 - Rare but Commonest Hereditary Neuropathy [PDF]
Al Ameen Journal of Medical Sciences, 2012 Objective: To present a case of Charcot Marie Tooth Disease. Backgrounds: A 22 years old boy presented with very slowly progressive symmetrical weakness of both lower limbs with distal muscular atrophy.
Shakya Bhattacharjee +1 more
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