Article
Spectrum and frequencies of mutations in the MFN2 gene and its phenotypical expression in Czech hereditary motor and sensory neuropathy type II patients.
Molecular medicine reports - 1 Dec 2013
Brožková Dana Šafka, Posádka Jan, Laššuthová Petra, Mazanec Radim, Haberlová Jana, Sišková Dana, Sakmaryová Iva, Neupauerová Jana, Seeman Pavel
Abstract excerpt
The axonal type of Charcot‑Marie‑Tooth (CMT) disorders is genetically heterogeneous, therefore the causal mutation is unlikely to be observed, even in clinically well characterized patients. Mitofusin‑2 (MFN2) gene mutations are the most frequent cause of axonal CMT disorders in a number of populations. There are two phenotypes; early onset, which is severe and late onset, which is a milder phenotype. A cohort of...
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