Mitochondria fulfill numerous cellular functions including ATP production, Ca2+ buffering,
neurotransmitter synthesis and degradation, ROS production and sequestration, apoptosis …

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

Mutations in the GDAP1 gene cause Charcot–Marie–Tooth (CMT) neuropathy. GDAP1 is an
atypical glutathione S-transferase (GST) of the outer mitochondrial membrane and the …

Objectives: To determine the genetic distribution and the phenotypic correlation of an
extensive series of patients with Charcot-Marie-Tooth disease in a geographically well …

First described at the end of the nineteenth century by French neurologists Jean Martin
Charcot and Pierre Marie and British neurologist Howard Henry Tooth, Charcot-Marie-Tooth …

Abstract Charcot–Marie–Tooth disease (CMT) is the most frequent form of inherited
neuropathy with great variety of phenotypes, inheritance patterns, and causative genes …

Why is peripheral neuropathy common but mild in many mitochondrial disorders, and why is
it, in some cases, the predominant or only manifestation? Although this question remains …

Recent progress in the understanding of neurodegenerative diseases revealed that multiple
molecular mechanisms contribute to pathological changes in neurons. A large fraction of …

Abstract Charcot–Marie–Tooth disease (CMT) is a complex disorder with wide genetic
heterogeneity. Here we present a new axonal Charcot–Marie–Tooth disease form …

Mutations in GDAP1, which encodes protein located in the mitochondrial outer membrane,
cause axonal recessive (AR-CMT2), axonal dominant (CMT2K) and demyelinating …