Charcot-Marie-Tooth neuropathy type 2A: novel mutations in the mitofusin 2 gene (
BMC Medical Genetics, 2006 Background Charcot-Marie-Tooth neuropathies are a group of genetically heterogeneous diseases of the peripheral nervous system. Mutations in the MFN2 gene have been reported as the primary cause of Charcot-Marie-Tooth disease type 2A.
Haas Gerhard +6 more
doaj +1 more source
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
doaj +1 more source
What's the Function of Connexin 32 in the Peripheral Nervous System? [PDF]
, 2018 Connexin 32 (Cx32) is a fundamental protein in the peripheral nervous system (PNS) as its mutations cause the X-linked form of Charcot-Marie-Tooth disease (CMT1X), the second most common form of hereditary motor and sensory neuropathy and a demyelinating
Bortolozzi, Mario
core +1 more source
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
doaj +1 more source
Emerging functions of mammalian mitochondrial fusion and fission [PDF]
, 2005 Mitochondria provide a myriad of services to the cell, including energy production, calcium buffering and regulation of apoptosis. How these diverse functions are coordinated among the hundreds of mitochondria in a given cell is largely unknown, but is ...
Chan, David C., Chen, Hsiuchen
core +1 more source
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
core +3 more sources
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
core +2 more sources
Complementation between mouse Mfn1 and Mfn2 protects mitochondrial fusion defects caused by CMT2A disease mutations [PDF]
, 2007 Mfn2, an oligomeric mitochondrial protein important for mitochondrial fusion, is mutated in Charcot-Marie-Tooth disease (CMT) type 2A, a peripheral neuropathy characterized by axonal degeneration.
Chan, David C., Detmer, Scott A.
core +2 more sources
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
doaj
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
core +1 more source