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Article

[Facioscapuloperoneal muscular dystrophy: correlation between a phenotype and genotype].

Patologicheskaia fiziologiia i eksperimental'naia terapiia - 1 Jan 2000

Rudenko D I, Kazakov B M, Skoromets A A, Magomedova N K

Abstract excerpt

Thirty four symptomatic and 17 presymptomatic (PS) patients from 21 autosomal dominant facioscapuloperoneal muscular dystrophy (FSPMD) families were found by the probe p13E-11 and enzymes EcoRI/BlnI to have DNA fragments size (DFS) between 13-35 kb (double digestion) and in other 8 PS patients - 37-39 kb, in one PS woman - 45 kb caused by deletion related to the disease and linked with chromosome 4q35. In all the...

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PMID: 19537084

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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