Charcot–Marie–Tooth (CMT) disease represents a large group of clinically and genetically
heterogeneous disorders leading to inherited peripheral neuropathies affecting motor and …

Mutations in GDAP1 lead to recessively or dominantly inherited peripheral neuropathies
(Charcot–Marie–Tooth disease, CMT), indicating that GDAP1 is essential for the viability of …

There are more than 260 million people of Slavic descent worldwide, who reside mainly in
Eastern Europe but also represent a noticeable share of the population in the USA and …

Autosomal recessive forms of Charcot-Marie-Tooth disease (ARCMT) are rare but severe
disorders of the peripheral nervous system. Their molecular basis is poorly understood due …

Charcot-Marie-Tooth disease (CMT) is a heritable neurodegenerative disease that displays
great genetic heterogeneity. The genes and mutations that underlie this heterogeneity have …

Mutations in ganglioside-induced differentiation-associated-protein 1 (GDAP1) have been
associated with both subtypes of Charcot–Marie–Tooth (CMT) disease, autosomal recessive …

Background Mutations in GDAP1 are responsible for heterogeneous clinical and
electrophysiological phenotypes of Charcot‐Marie‐Tooth disease (CMT), with autosomal …

The question of whether a newly identified sequence variant is truly a causative mutation is
a central problem of modern clinical genetics. In the current era of massive sequencing …

A severe recessive and a mild dominant form of Charcot-Marie- Tooth disease associated with
a newly identified Glu222Lys GDAP1 g Page 1 Regular paper A severe recessive and a mild …

Charcot–Marie–Tooth disease (CMT) is a heritable neurodegenerative disease of peripheral
nervous system diseases in which more than 100 genes and their mutations are associated …