Results 101 to 110 of about 49,167 (262)

Genetically confirmed Charcot–Marie–Tooth disease type 2A manifesting with postural tremor: a case report

Journal of Medical Case Reports
Background Charcot–Marie–Tooth disease is a spectrum of inherited disorders characterized by both motor and sensory manifestations, which include prominent distal muscle weakness, foot deformities (pes cavus and hammer toes), and sensory deficits ...
Salhadin Mohammed, Selam Kifelew, Fikru Tsehayneh, Abel Teklit Haile, Esrom Hagos Gebrehiwot   +4 more
doaj   +1 more source

Differential negative dominance by KCNA2 variants associated with global developmental delay suggests KCNA2 haploinsufficiency in humans

The Journal of Physiology, Volume 604, Issue 8, Page 3413-3430, 15 April 2026.
Abstract figure legend Potassium‐selective KV1.2 channels are encoded by the KCNA2 gene and regulate electrical signalling in neurons. KCNA2 genetic variants are associated with epileptic and developmental encephalopathy. We characterized two variants that subtly alter the channel's amino acid composition, p.H310D and p.G318D.
Pei Xin Boon, Amaia Jauregi‐Miguel, S. Suheda Yasarbas, Serena Pozzi, Urban Karlsson, Ammar Husami, Charmaine Ko, Amelle Shillington, Antonios Pantazis   +8 more
wiley   +1 more source

POLG1 Mutations and Charcot-Marie-Tooth Disease

Pediatric Neurology Briefs, 2008
A 35-year-old man first diagnosed with autosomal recessive Charcot-Marie-Tooth disease type 2 at 22 years of age had an abnormal gait and pes cavus at age 10 years.
J Gordon Millichap
doaj   +1 more source

Impaired Function is a Common Feature of Neuropathy‐Associated Glycyl‐t RNA Synthetase Mutations [PDF]

, 2014
C harcot– M arie– T ooth disease type 2 D ( CMT 2 D ) is an autosomal‐dominant axonal peripheral neuropathy characterized by impaired motor and sensory function in the distal extremities.
Antonellis, Anthony, Gonzalez, Michael A., Griffin, Laurie B., Hou, Ya‐ming, McGuigan, David, Sakaguchi, Reiko, Searby, Charles, Züchner, Stephan   +7 more
core   +2 more sources

Challenges in modelling the Charcot-Marie-Tooth neuropathies for therapy development

Journal of Neurology Neurosurgery & Psychiatry, 2018
Much has been achieved in terms of understanding the complex clinical and genetic heterogeneity of Charcot-Marie-Tooth neuropathy (CMT). Since the identification of mutations in the first CMT associated gene, PMP22, the technological advancement in ...
M. Juneja, J. Burns, M. Saporta, V. Timmerman   +3 more
semanticscholar   +1 more source

Auditory Neuropathy: Challenges and Significant Progress in Diagnosis and Treatment

Advanced Therapeutics, Volume 9, Issue 3, March 2026.
Auditory neuropathy is a complex disorder that causes sensorineural hearing impairment in patients. Recently, breakthrough progress has been made in the gene therapy of auditory neuropathy. This review focuses on auditory neuropathy, covering its pathophysiology, etiology, epidemiology, clinical manifestations, diagnostic techniques, treatment ...
Wen Xie, Ling Lu, Busheng Tong, Lian Fang, Qingqing Dai, Xiaowan Chen, Jieyu Qi, Xiaoyun Qian, Xia Gao, Renjie Chai, Jun Yang, Maoli Duan   +11 more
wiley   +1 more source

The experience of falls and balance impairment for people with Charcot-Marie-Tooth disease [PDF]

, 2017
People with Charcot Marie Tooth disease (CMT) have impairments of balance and may fall more frequently than those without the condition. This qualitative study aimed to explore the experiences of falling and poor balance through focus group interviews.
Marsden, Jonathan F, Ramdharry, Gita M, Reilly, Mary M, Thornhill, Anna   +3 more
core   +2 more sources

Charcot-Marie-Tooth disease: A case report initially manifested by bilateral vocal cord paralysis

Respiratory Medicine Case Reports
Charcot-Marie-Tooth is an inherited disorder involving multiple genes, causing progressive nerve damage affecting sensation and movement. The complexity of the condition often leads to various possible diagnoses along with neuropathic diseases, sometimes
Seyed Hossein Mirlohi, Sanaz Tajfirooz, Mitra Rouhi   +2 more
doaj   +1 more source

Mutations in noncoding regions of GJB1 are a major cause of X-linked CMT [PDF]

, 2017
OBJECTIVE: To determine the prevalence and clinical and genetic characteristics of patients with X-linked Charcot-Marie-Tooth disease (CMT) due to mutations in noncoding regions of the gap junction β-1 gene (GJB1).
Blake, JC, Carr, A, Horga, A, Houlden, H, Jaunmuktane, Z, Laura, M, Pareyson, D, Piscosquito, G, Poh, R, Polke, J, Reilly, MM, Rossor, AM, Saveri, P, Tomaselli, PJ   +13 more
core   +1 more source

Variante en gen HARS detectada en exoma clínico: etiología de neuropatía periférica tras más de 20 años sin diagnóstico

Advances in Laboratory Medicine, 2020
Describimos un caso con enfermedad de Charcot Marie Tooth axonal tipo 2W, trastorno neurólogico caracterizado por una neuropatía periférica, que afecta principalmente a las extremidades inferiores y provoca dificultades en la marcha y deterioro sensitivo-
Lahoz Alonso Raquel, Sienes Bailo Paula, Capablo Liesa Jose Luis, Álvarez de Andrés Sara, Bancalero Flores Jose Luis, Izquierdo Álvarez Silvia   +5 more
doaj   +1 more source