Charcot-Marie-Tooth (CMT) neuropathies comprise a group of monogenic disorders
affecting the peripheral nervous system. CMT is characterized by a clinically and genetically …

The distal hereditary motor neuropathies (dHMN) comprise a heterogenous group of
diseases that share the common feature of a length-dependent predominantly motor …

The Sigma 1 receptor (Sigmar1) is a ubiquitously expressed multifunctional inter-organelle
signaling chaperone protein playing a diverse role in cellular survival. Recessive mutation in …

Spinal muscular atrophies (SMAs) are a group of inherited disorders characterized by motor
neuron loss in the spinal cord and lower brainstem, muscle weakness, and atrophy. The …

Монография посвящена современным возможностям ДНК-диагностики и основанного
на ней медико-генетического консультирования при наследственных заболеваниях …

Summary Charcot‐Marie‐Tooth disease (CMT) is the most common neuromuscular
disorder. It represents a group of clinically and genetically heterogeneous inherited …

Hereditary motor neuropathies (HMN) were first defined as a group of neuromuscular
disorders characterized by lower motor neuron dysfunction, slowly progressive length …

Distal hereditary motor neuropathies (dHMNs) are clinically and genetically heterogeneous
neurological conditions characterized by degeneration of the lower motor neurons. So far …

The most common form of spinal muscular atrophy (SMA) is a recessive disorder caused by
deleterious SMN1 mutations in 5q13, whereas the genetic etiologies of non-5q SMA are …

Objective: To identify the underlying genetic cause in a consanguineous Chinese family
segregating distal hereditary motor neuropathy (dHMN) in an autosomal recessive pattern …