This is a rapidly evolving field where better understanding of pathophysiology is paving the
way to develop potentially effective treatments, part of which will soon be tested in patients …

Chronic neuropathies are operationally classified as primarily demyelinating or axonal, on
the basis of electrodiagnostic or pathological criteria. Demyelinating neuropathies are …

Background The international Inherited Neuropathy Consortium (INC) was created with the
goal of obtaining much needed natural history data for patients with Charcot-Marie-Tooth …

We report the frequency, positive rate, and type of mutations in 14 genes (PMP22, GJB1,
MPZ, MFN2, SH3TC2, GDAP1, NEFL, LITAF, GARS, HSPB1, FIG4, EGR2, PRX, and …

Abstract Mitofusin 2 (MFN2) is a GTPase dynamin-like protein of the outer mitochondrial
membrane, encoded in the nuclear genome by the MFN2 gene located on the short (p) arm …

Background and purpose Distal hereditary motor neuropathies (dHMNs) are a
heterogeneous group of disorders characterized by degeneration of the motor component of …

Peripheral nerves have peculiar energetic requirements because of considerable length of
axons and therefore correct mitochondria functioning and distribution along nerves is …

Abstract Introduction Mutations in GDAP1 (Ganglioside-induced differentiation-associated
protein 1) gene are linked to Charcot-Marie-Tooth disease (CMT), a Heterogenous group of …

Recent research in the field of inherited peripheral neuropathies (IPNs) such as Charcot–
Marie–Tooth (CMT) disease has helped identify the causative genes provided better …

We present clinical features and genetic results of 1206 index patients and 124 affected
relatives who were referred for genetic testing of Charcot–Marie–Tooth (CMT) neuropathy at …