PURPOSE
SLC26A2-related skeletal dysplasias range from recessive multiple epiphyseal dysplasia (rMED) to lethal atelosteogenesis type 2, but factors underlying clinical variability are not fully defined. This study aimed to delineate genotype-phenotype correlations and identify disease modifiers in the largest cohort r...
Daria Gorodilova, T. Markova, V. Kenis et al.· Genetics in Medicine· 0 citations
13 patients from 12 families with two hereditary diseases of the nervous system, verified by DNA analysis, are described and 8 gene variants are identified, 8 of which have not been previously described.
G. Rudenskaya, A. Kuchina, E. Melnik et al.· Neuromuscular Diseases· 0 citations
The phenotypic spectrum of CMS type 11 is characterized by a wide phenotypic spectrum – from a mild limb-girdle phenotype with extraocular involvement and childhood onset to severe forms with neonatal manifestation and respiratory failure, and early orthopedic complications.
E. Melnik, S. N. Bardakov, S. Nikitin et al.· Neuromuscular Diseases· 0 citations
It is demonstrated that early-onset MORC2-associated disorders segregate into two principal neurological phenotypes: a predominantly neuromuscular form and a central nervous system-predominant form.
A. Murtazina, Eugenii Tatarsky, I. Viakhireva et al.· Journal of Medical Genetics· 0 citations
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