PMC8114593_01
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
TAP-56-1-68-g01.jpg
PMC8114593_04_TAP-56-1-68-g01.jpg
f1-tap-56-1-68
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.
X-ray graphics of case 2 and 3 with scoliosis
TAP-56-1-68-g02.jpg
PMC8114593_04_TAP-56-1-68-g02.jpg
f2-tap-56-1-68
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.
PMC8114593_02
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
TAP-56-1-68-g01.jpg
PMC8114593_04_TAP-56-1-68-g01.jpg
f1-tap-56-1-68
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.
X-ray graphics of case 2 and 3 with scoliosis
TAP-56-1-68-g02.jpg
PMC8114593_04_TAP-56-1-68-g02.jpg
f2-tap-56-1-68
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.
PMC8114593_03
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
TAP-56-1-68-g01.jpg
PMC8114593_04_TAP-56-1-68-g01.jpg
f1-tap-56-1-68
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.
X-ray graphics of case 2 and 3 with scoliosis
TAP-56-1-68-g02.jpg
PMC8114593_04_TAP-56-1-68-g02.jpg
f2-tap-56-1-68
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.
PMC8114593_04
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
TAP-56-1-68-g01.jpg
PMC8114593_04_TAP-56-1-68-g01.jpg
f1-tap-56-1-68
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.
X-ray graphics of case 2 and 3 with scoliosis
TAP-56-1-68-g02.jpg
PMC8114593_04_TAP-56-1-68-g02.jpg
f2-tap-56-1-68
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.