case_images: PMC8114593_01
case_images: Pedigree of the family carrying POMT2 mutation related LGMD2N and sequence analysis of POMT2 revealed a homozygous missense mutation of c.1261C>T (p.Arg421Trp)(R421W) in exon 12
case_images: TAP-56-1-68-g01.jpg
case_images: PMC8114593_04_TAP-56-1-68-g01.jpg
case_images: f1-tap-56-1-68
case_images: A 4-year-old girl (Figure 1; II-6) was born after an uneventful pregnancy and delivery. Serum CK levels were normal in her two brothers (Figure 1; II-1, II-5) who had no motor or cognitive impairment. One (Figure 1; II-5) had the heterozygous mutation and the other (Figure 1; II-1) had no mutation. Figure 1 shows the pedigree and sequence analysis.
case_images: X-ray graphics of case 2 and 3 with scoliosis
case_images: TAP-56-1-68-g02.jpg
case_images: PMC8114593_04_TAP-56-1-68-g02.jpg
case_images: f2-tap-56-1-68
case_images: A 4-year-old girl (Figure 1; II-6) was born after an uneventful pregnancy and delivery. One (Figure 1; II-5) had the heterozygous mutation and the other (Figure 1; II-1) had no mutation.
case_images: PMC8114593_02
case_images: Pedigree of the family carrying POMT2 mutation related LGMD2N and sequence analysis of POMT2 revealed a homozygous missense mutation of c.1261C>T (p.Arg421Trp)(R421W) in exon 12
case_images: TAP-56-1-68-g01.jpg
case_images: PMC8114593_04_TAP-56-1-68-g01.jpg
case_images: f1-tap-56-1-68
case_images: A 4-year-old girl (Figure 1; II-6) was born after an uneventful pregnancy and delivery. Serum CK levels were normal in her two brothers (Figure 1; II-1, II-5) who had no motor or cognitive impairment. One (Figure 1; II-5) had the heterozygous mutation and the other (Figure 1; II-1) had no mutation. Figure 1 shows the pedigree and sequence analysis.
case_images: X-ray graphics of case 2 and 3 with scoliosis
case_images: TAP-56-1-68-g02.jpg
case_images: PMC8114593_04_TAP-56-1-68-g02.jpg
case_images: f2-tap-56-1-68
case_images: A 4-year-old girl (Figure 1; II-6) was born after an uneventful pregnancy and delivery. One (Figure 1; II-5) had the heterozygous mutation and the other (Figure 1; II-1) had no mutation.
case_images: PMC8114593_03
case_images: Pedigree of the family carrying POMT2 mutation related LGMD2N and sequence analysis of POMT2 revealed a homozygous missense mutation of c.1261C>T (p.Arg421Trp)(R421W) in exon 12
case_images: TAP-56-1-68-g01.jpg
case_images: PMC8114593_04_TAP-56-1-68-g01.jpg
case_images: f1-tap-56-1-68
case_images: A 4-year-old girl (Figure 1; II-6) was born after an uneventful pregnancy and delivery. Serum CK levels were normal in her two brothers (Figure 1; II-1, II-5) who had no motor or cognitive impairment. One (Figure 1; II-5) had the heterozygous mutation and the other (Figure 1; II-1) had no mutation. Figure 1 shows the pedigree and sequence analysis.
case_images: X-ray graphics of case 2 and 3 with scoliosis
case_images: TAP-56-1-68-g02.jpg
case_images: PMC8114593_04_TAP-56-1-68-g02.jpg
case_images: f2-tap-56-1-68
case_images: A 4-year-old girl (Figure 1; II-6) was born after an uneventful pregnancy and delivery. One (Figure 1; II-5) had the heterozygous mutation and the other (Figure 1; II-1) had no mutation.
case_images: PMC8114593_04
case_images: Pedigree of the family carrying POMT2 mutation related LGMD2N and sequence analysis of POMT2 revealed a homozygous missense mutation of c.1261C>T (p.Arg421Trp)(R421W) in exon 12
case_images: TAP-56-1-68-g01.jpg
case_images: PMC8114593_04_TAP-56-1-68-g01.jpg
case_images: f1-tap-56-1-68
case_images: A 4-year-old girl (Figure 1; II-6) was born after an uneventful pregnancy and delivery. Serum CK levels were normal in her two brothers (Figure 1; II-1, II-5) who had no motor or cognitive impairment. One (Figure 1; II-5) had the heterozygous mutation and the other (Figure 1; II-1) had no mutation. Figure 1 shows the pedigree and sequence analysis.
case_images: X-ray graphics of case 2 and 3 with scoliosis
case_images: TAP-56-1-68-g02.jpg
case_images: PMC8114593_04_TAP-56-1-68-g02.jpg
case_images: f2-tap-56-1-68
case_images: A 4-year-old girl (Figure 1; II-6) was born after an uneventful pregnancy and delivery. One (Figure 1; II-5) had the heterozygous mutation and the other (Figure 1; II-1) had no mutation.