title: [Hereditary motor and sensory neuropathy type 4A].
abstract: The first in the Russian Federation clinical cases of patients with autosomal-recessive type of hereditary motor and sensory neuropathy, type 4A, (HMSN 4A) are presented. In all cases, the diagnosis has been verified using molecular-genetic methods (DNA diagnostics). An analysis of features of clinical manifestations was performed in patients, aged from 5 to 34 years, with different disease duration (from 3-to 29 years). Criteria of selection of patients for DNA diagnostics for searching mutations in the GDAP1 gene are specified.
authors.forename: O A
authors.initials: OA
authors.lastname: Shagina
authors.forename: E L
authors.initials: EL
authors.lastname: Dadali
authors.forename: V P
authors.initials: VP
authors.lastname: Fedotov
authors.forename: T B
authors.initials: TB
authors.lastname: Tiburkova
authors.forename: A V
authors.initials: AV
authors.lastname: Poliakov
mesh_terms: D000293:Adolescent; D000328:Adult; D019943:Amino Acid Substitution / Q000235:genetics; D002648:Child; D002675:Child, Preschool; D004247:DNA / Q000032:analysis / Q000235:genetics; D005260:Female; D015417:Hereditary Sensory and Motor Neuropathy / Q000175:diagnosis* / Q000235:genetics* / Q000503:physiopathology; D006801:Humans; D007930:Leucine / Q000235:genetics; D008297:Male; D009154:Mutation; D009419:Nerve Tissue Proteins / Q000235:genetics*; D010649:Phenylalanine / Q000235:genetics; D012426:Russia; D055815:Young Adult
chemical_list: C118663:GDAP protein; D009419:Nerve Tissue Proteins; D010649:Phenylalanine; D004247:DNA; D007930:Leucine