Skip to main content

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 type

Gene

Mutation type

Sequence variation

Position

Zygosity

Cases, n

Families, n

 Muscular dystrophy

  MD1

DMPK

Expanded CTG (> 40)

 

3′-UTR

 

225

116

  FSHD1

DUX

Deletion D4Z4

   

25

21

  FSHD2

SMCHD1

SNV

c.5602C > T

Exon 45

Het

6

1

SMCHD1

SNV

c.2329A > T

Exon 18

Het

1

1

  LGMD2A

CAPN3

Frameshift variant

c.2362_2363delinsAG/TCATCT

Exon 22

Hom

16

15

CAPN3

CAPN3

SNV

Frameshift variant

c.664G > A

c.2362_2363delinsAG/TCATCT

Exon 5

Exon 22

Het

Het

1

1

  LGMD2B

DYSF

SNV

c.895G > A

Exon 9

Hom

1

1

  LGMD2C

SGCG

SNV

c.848G > A

Exon 8

Hom

2

2

  LGMD2D

SGCA

SNV

c.293G > A

Exon 3

Hom

1

1

  LGMD2I

FKRP

SNV

c.826C > A

Exon 4

Hom

1

1

  LGMD2L

ANO5

Frameshift variant

c.1627dupA

Exon 15

Hom

1

1

ANO5

Frameshift variant

c.191dupA

Exon 5

Hom

2

1

ANO5

ANO5

Frameshift variant

SNV

c.191dupA

c.1664G > T

Exon 5

Exon 16

Het

Het

1

1

ANO5

ANO5

SNV

Splice variant

c.172C > T

c.1119 + 1G > T

Exon 4

Intron 12

Het

Het

1

1

  OPMD

PABPN1

Expanded GCN (> 10)

 

Exon 1

 

5

4

  Emerin EDMD

EMD

Complete deletion

   

1

1

  Lamin EDMD

LMNA

SNV

c.1130G > A

Exon 6

Het

2

1

LMNA

SNV

c.215G > T

Exon 1

Het

1

1

LMNA

SNV

c.65C > A

Exon 1

Het

1

1

  DMC-Dystroglicanopathy

GMPPB

SNV

c.553C > T

Exon 5

Hom

1

1

 Metabolic myopathy

  GSD-II

GAA

GAA

Intronic variant

SNV

c.-32-13 T > G

c.1933G > T

Intron 1

Exon 14

Het

Het

1

1

GAA

GAA

Intronic variant

SNV

c.-32-13 T > G

c.1724A > G

Intron 1

Exon 12

Het

Het

1

1

  GSD-V

PYGM

Stop gained

c.148C > T

Exon 1

Hom

1

1

PYGM

PYGM

Stop gained

SNV

c.148C > T

c.1468C > T

Exon 1

Exon 12

Het

Het

1

1

PYGMa

    

1

1

PYGMa

    

1

1

  Lipid storage disease

CPT2

SNV

SNV

c.359A > G

c.1547 T > C

Exon 4

Exon 4

Het

Het

1

1

 Congenital myopathy

  Myosin storage

MYH-7

SNV

c.5533C > T

Exon 37

Het

1

1

MYH-7

SNV

c.1314G > A

Exon 14

Het

1

1

  Nemaline

ACTA1

SNV

c.808G > C

Exon 5

Het

1

1

 Myofibrillar myopathy

  Zaspopathy

LDB3

SNV

c.494C > T

Exon 5

Het

4

1

  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