Publications by authors named "L Barankova"

Divergence in sperm phenotype and female reproductive environment may be a common source of postmating prezygotic (PMPZ) isolation between species. However, compared to other reproductive barriers it has received much less attention. In this study, we examined sperm morphology and velocity in two hybridizing passerine species, the common nightingale (Luscinia megarhynchos) and thrush nightingale (L.

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Mutations in the Dynamin 2 gene (DNM2) cause autosomal dominant centronuclear myopathy or autosomal dominant (AD) Charcot-Marie-Tooth (CMT) disease. Here the authors report one large Czech family with 15 members affected with an AD CMT phenotype of extraordinary variability. Genetic linkage analysis using SNP arrays revealed a locus of about 9.

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Over 40 mutations in the GDAP1 gene have been shown to segregate with Charcot-Marie-Tooth disease (CMT). Among these, only two mutations, i.e.

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Article Synopsis
  • A novel mutation in the LMNA gene (c.1157 G>T) has been identified in a Czech patient with early-onset Emery-Dreifuss muscular dystrophy, leading to abnormal splicing.
  • The patient, now 21, began showing signs of slowly progressing muscle dystrophy at the age of one, along with early contractures of the elbows.
  • He is the only affected family member, and although the dystrophy usually impacts the heart, there are currently no cardiac symptoms present in his case.
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The LMNA gene was sequenced in 98 Czech patients from 94 unrelated families with early-onset axonal Charcot-Marie-Tooth (CMT) disease consistent with both autosomal recessive inheritance and sporadic cases. Biallelic pathogenic mutations were not found in any patient in this group. One patient carried the c.

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