Results 101 to 110 of about 26,653 (213)
MFN2 point mutations occur in 3.4% of Charcot-Marie-Tooth families. An investigation of 232 Norwegian CMT families [PDF]
, 2010 Background Point mutations in the mitofusin 2 (MFN2) gene has been identified exclusively in Charcot-Marie-Tooth type 2 (CMT2), and in a single family with intermediate CMT. MFN2 point mutations are probably the most common cause of CMT2.
Geir J Braathen +28 more
core +1 more source
PMP22 exon 4 deletion causes ER retention of PMP22 and a gain-of-function allele in CMT1E [PDF]
, 2017 OBJECTIVE: To determine whether predicted fork stalling and template switching (FoSTeS) during mitosis deletes exon 4 in peripheral myelin protein 22 KD (PMP22) and causes gain‐of‐function mutation associated with peripheral neuropathy in a family with ...
Bai, Yunhong +8 more
core +2 more sources
Frontiers in NeurologyThis report presents a case of Charcot–Marie–Tooth dominant intermediate D (CMTDID), a rare subtype of Charcot–Marie–Tooth disease, in a 52 years-old male patient. The patient exhibited mobility impairment, foot abnormalities (pes cavus), and calf muscle
Gao-Hui Cao +6 more
doaj +1 more source
Fly model causes neurological rethink
eLife, 2013 A Drosophila model for a neurological disorder called type 2B Charcot-Marie-Tooth disease reveals that it has its origins in a partial loss of function, rather than a gain of function, which points to the need for a new therapeutic approach.
Madhumala K Sadanandappa, Mani Ramaswami
doaj +1 more source
Myelin is dependent on the Charcot-Marie-Tooth Type 4H disease culprit protein FRABIN/FGD4 in Schwann cells [PDF]
, 2017 Studying the function and malfunction of genes and proteins associated with inherited forms of peripheral neuropathies has provided multiple clues to our understanding of myelinated nerves in health and disease.
Baumann, Reto +12 more
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Molecular Diagnosis of Charcot-Marie Tooth Disease
Pediatric Neurology Briefs, 2002 The frequency of mutations in certain genes in 153 unrelated patients with Charcot-Marie-Tooth disease (CMT) was determined by DNA sequencing before clinical testing at the Departments of Molecular and Human Genetics and Pediatrics, Baylor College of ...
J. Gordon Millichap
doaj +1 more source
Rehabilitation issues in Charcot-Marie-Tooth disease
Journal of Pediatric Rehabilitation Medicine, 2016 Charcot Marie Tooth (CMT) disease is the most common hereditary sensorimotor neuropathy that has a slow onset. It presents usually in childhood, starting distally and from the lower limbs progressing to more proximal muscles.
Ozge Kenis-Coskun, Dennis J. Matthews
doaj +1 more source
Noncompaction Cardiomyopathy with Charcot-Marie-Tooth Disease
Case Reports in Cardiology, 2015 We report a case of a 53-year-old female presenting with a new-onset heart failure that was contributed secondary to noncompaction cardiomyopathy. The diagnosis was made by echocardiogram and confirmed by cardiac MRI.
Sherif Ali Eltawansy +2 more
doaj +1 more source
The Gdap1 knockout mouse mechanistically links redox control to Charcot-Marie-Tooth disease [PDF]
, 2017 Mutations in the mitochondrial fission factor GDAP1 are associated with severe peripheral neuropathies, but why the CNS remains unaffected is unclear. Using a Gdap1−/− mouse, Niemann et al.
Angst, Brigitte +15 more
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Pathomechanisms of mutant proteins in Charcot-Marie-Tooth disease [PDF]
, 2018 We review the putative functions and malfunctions of proteins encoded by genes mutated in Charcot-Marie-Tooth disease (CMT; inherited motor and sensory neuropathies) in normal and affected peripheral nerves. Some proteins implicated in demyelinating CMT,
Berger, Philipp +2 more
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