HINT1 gene pathogenic variants: the most common cause of recessive hereditary motor and sensory neuropathies in Russian patients.

Pathogenic variants in the HINT1 gene lead to hereditary axonopathy with neuromyotonia. However, many studies show that neuromyotonia may remain undiagnosed, while axonopathy is the major clinical finding. The most common cause of neuromyotonia and axonopathy, especially in patients of Slavic origin, is a c.

[Coincidence of hereditary motor and sensory neuropathy type 1A and limb girdle muscular dystrophy type 2A].

A rare case of two neuromuscular disorders in a 29-year-old female is presented: autosomal dominant hereditary motor and sensory neuropathy type 1A (HMSN1A) due to PMP22 duplication and autosomal recessive limb girdle muscular dystrophy type 2A (LGMD2A) produced by CAPN3 common mutation c.550delA and novel c.575C>G (p.

[Clinical/genetic characteristics of patients with congenital muscular dystrophy caused by mutations in the LMNA gene].

Objective: To study clinical/genetic characteristics of congenital muscular dystrophy caused by mutations in the LMNA gene in 5 patients from the Russian population.

Material And Methods: DNA samples of 42 probands, aged from 2 months to 9 years, with characteristic signs of congenital muscular dystrophy from nonrelated families were studied. The diagnosis was based on the results of genealogical analysis, neurological examination, serum creatine phosphokinase activity, results of electroneuromyography.

[Clinical-genetic characteristics of hereditary motor-sensory neuropathy type 1 X].

Data of own researches and the review of the literary data for studying pathogenesis and features of HMSN, type 1 Х caused by mutations in gene GJB1 are presented in this paper. X-linked HMSN is the genetic variant second for frequency in Russian, it constitute 22% from total of patients of this group. Features of this genetic variant are considerable distinction in weight clinical displays at patients man's and female.