Mutations in the mitofusin 2 (MFN2) gene, which encodes a mitochondrial GTPase mitofusin
protein, have recently been reported to cause both Charcot–Marie–Tooth 2A (CMT2A) and …

Recent progress in human genetics and neurobiology has led to the identification of various
mutations in particular myelin genes as the cause for many of the known inherited …

Abstract Charcot-Marie-Tooth disease type 1A is most commonly caused by a duplication of
a 1.5 Mb region of chromosome 17 which includes the peripheral myelin protein 22 gene …

Hereditary peripheral neuropathies are the most common monogenetically inherited
diseases of the nervous system. The prevalence of the Hereditary Motor and Sensory …

A previously unrecognized neuropathy was identified in Bulgarian gypsies, and was
designated hereditary motor and sensory neuropathy-Lom (HMSNL) after the town where …

BACKGROUND X linked dominant Charcot-Marie-Tooth disease (CMT1X) is an inherited
motor and sensory neuropathy that mainly affects the peripheral nervous system. CMT1X is …

Abstract Charcot Marie Tooth (CMT) disease comprises a group of disorders characterized
by progressive distal muscle weakness and wasting. Review of the anaesthetic literature …

A novel peripheral neuropathy of autosomal recessive inheritance has been identified in
Balkan Gypsies and termed hereditary motor and sensory neuropathy‐Russe (HMSN‐R) …

Abstract Charcot-Marie-Tooth (CMT) disease serves as the summary term for the most
frequent forms of inherited peripheral neuropathies that affect motor and sensory nerves. In …

We examined nerve biopsies from 24 patients with Charcot‐Marie‐Tooth disease type 1A
(CMT1A) and proven 17p11. 2‐12 duplication. There were seven males and 17 females with …