PMC10272758_01
Molecular findings in the investigated pedigree. (A) Pedigree of the family. Black symbols indicate the affected probands (patient 1: "P1" and patient 2: "P2") carrying the described ATP2A1 variants. (B) Gel agarose showing RT-PCR products encompassing exons 1 and 6, obtained by blood extracted cDNA showing, besides the wild-type band, a smaller fragment compatible the skipping of part of the ATP2A1 transcript in the affected siblings and their mother ("mw" indicates the molecular weight). (C) Sequence electropherogram of genomic (gDNA) and complementary (cDNA) DNA products showing the effect of the c.324 + 1G > A variation in the alteration of physiological splicing of ATP2A1. The heterozygous deletion c.2464delC, resulting in the loss of ATP2A1 reading frame, is observed at genomic and cDNA level.
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PMC10272758_01_fneur-14-1170071-g001.jpg
fig1
Family history is uneventful and negative for neuromuscular problems (see Figure 1).
PMC10272758_02