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Table 4 Pathogenic molecular defect of each genetically confirmed IMD

From: Epidemiological study and genetic characterization of inherited muscle diseases in a northern Spanish region

Muscular disease typeGeneMutation typeSequence variationPositionZygosityCases, nFamilies, n
 Muscular dystrophy
  MD1DMPKExpanded CTG (> 40) 3′-UTR 225116
  FSHD1DUXDeletion D4Z4   2521
  FSHD2SMCHD1SNVc.5602C > TExon 45Het61
SMCHD1SNVc.2329A > TExon 18Het11
  LGMD2ACAPN3Frameshift variantc.2362_2363delinsAG/TCATCTExon 22Hom1615
CAPN3
CAPN3
SNV
Frameshift variant
c.664G > A
c.2362_2363delinsAG/TCATCT
Exon 5
Exon 22
Het
Het
11
  LGMD2BDYSFSNVc.895G > AExon 9Hom11
  LGMD2CSGCGSNVc.848G > AExon 8Hom22
  LGMD2DSGCASNVc.293G > AExon 3Hom11
  LGMD2IFKRPSNVc.826C > AExon 4Hom11
  LGMD2LANO5Frameshift variantc.1627dupAExon 15Hom11
ANO5Frameshift variantc.191dupAExon 5Hom21
ANO5
ANO5
Frameshift variant
SNV
c.191dupA
c.1664G > T
Exon 5
Exon 16
Het
Het
11
ANO5
ANO5
SNV
Splice variant
c.172C > T
c.1119 + 1G > T
Exon 4
Intron 12
Het
Het
11
  OPMDPABPN1Expanded GCN (> 10) Exon 1 54
  Emerin EDMDEMDComplete deletion   11
  Lamin EDMDLMNASNVc.1130G > AExon 6Het21
LMNASNVc.215G > TExon 1Het11
LMNASNVc.65C > AExon 1Het11
  DMC-DystroglicanopathyGMPPBSNVc.553C > TExon 5Hom11
 Metabolic myopathy
  GSD-IIGAA
GAA
Intronic variant
SNV
c.-32-13 T > G
c.1933G > T
Intron 1
Exon 14
Het
Het
11
GAA
GAA
Intronic variant
SNV
c.-32-13 T > G
c.1724A > G
Intron 1
Exon 12
Het
Het
11
  GSD-VPYGMStop gainedc.148C > TExon 1Hom11
PYGM
PYGM
Stop gained
SNV
c.148C > T
c.1468C > T
Exon 1
Exon 12
Het
Het
11
PYGMa    11
PYGMa    11
  Lipid storage diseaseCPT2SNV
SNV
c.359A > G
c.1547 T > C
Exon 4
Exon 4
Het
Het
11
 Congenital myopathy
  Myosin storageMYH-7SNVc.5533C > TExon 37Het11
MYH-7SNVc.1314G > AExon 14Het11
  NemalineACTA1SNVc.808G > CExon 5Het11
 Myofibrillar myopathy
  ZaspopathyLDB3SNVc.494C > TExon 5Het41
  1. a Evidence of genetic confirmation in the clinical record; no access to the identified mutation
  2. Hom Homozygous, Het Heterozygous, SNV Single Nucleotide Variation