Mutations in the MT-ATP6 gene cause neuropathy, ataxia, and retinitis pigmentosa.
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The MT-ATP6 protein forms one part (subunit) of an enzyme called ATP synthase, which is responsible for the last step in ATP production.
Peripheral neuropathy | neuropathy | Radial neuropathy | Kjer's optic neuropathy | Diabetic neuropathy |
He then carried out studies between 1922 and 1924 at universities of Munich and Hamburg in Germany as well as at University of Vienna, Austria, specializing in neuropathy.
Alternatively, a European Medicines Agency approved drug Tafamidis or Vyndaqel now exists which stabilizes transthyretin tetramers comprising wild type and different mutant subunits against amyloidogenesis halting the progression of peripheral neuropathy and autonomic nervous system dysfunction.
In the late 1960s, he investigated cases of ataxic neuropathy in Epe where residents usually consume a dose of ill processed cassava with little or no supplement.
A recent study revealed dysfunction of a particular sodium channel (Nav1.7) in a significant portion of the patient population with an idiopathic small fiber neuropathy.
An absence of reflex can be an indicator of several medical conditions: Myopathy, neuropathy, spondylosis, sensory nerve disease, neuritis, potential lower motor neuron lesion, or poliomyelitis.