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Table 2 Pathogenic mutations in the 16 patients.

From: Cardiovascular magnetic resonance of cardiomyopathy in limb girdle muscular dystrophy 2B and 2I

Patient

Gene

Mutation

1

FKRP

[c.826C>A]+ [c.826C>A]

2

FKRP

[c.520A>T]+ [c.-34C>T]

3

FKRP

[826C>A]+ [826C>A]

4

FKRP

[826C>A]+ [826C>A]

5

FKRP

[826C>A]

6

FKRP

[826C>A]+ [826C>A]

7

FKRP+SGCA

[826C>A]+[826C>A] in FKRP + [850C>T] in SGCA gene*

8

DYSF

[c.2643+1G>A]+[c.4577A>C]

9

DYSF

[c.1481-1G>A]+[c.5836_5839del]

10

DYSF

[c.3892A>G]

11

DYSF

[c.3892A>G]

12

DYSF

[c.3065G>A; c.3992G>T]

13

DYSF

[c.610C>T]+ [c.5884C>T]

14

DYSF

[c.2408G>A]

15

DYSF

[c.1392dupA]+[c.3516_3517delTT]

16

DYSF

[c.1120G>C]+[c.5713C>T]

  1. FKRP, Fukutin-related protein; SGCA, alpha-Sarcoglycan gene; DYSF, dysferlin gene. *Patient #7 was found homozygous for a common mutation [826C>A] in the FKRP gene, and also carrier of one known pathogenic mutation [850C>T] in the alpha-sarcoglycan gene (LGMD type 2D) in a heterozygous state.
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Journal of Cardiovascular Magnetic Resonance

ISSN: 1532-429X

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