4
Table 1. Genetics, cardiovascular complications, and NMDs
NMD Section Heritance Gene locus Disease protein
DMD 3 X-linked
(XL)
Xp21 Dystrophin
BMD 3 XL Xp21 Dystrophin
Limb-girdle muscular
dystrophy type 2
(LGMD2)
a
3 Autosomal
recessive
(AR)
Various Various
DM1 4 Autosomal
dominant
(AD)
19q13 Myotonic
dystrophy
protein kinase
(DMPK)
DM2 4 AD 3q21 Zinc finger 9
(ZNF9)
EDMD 5 XL Xq28 Emerin
LGMD1B
a
5 AD 1q11-21 Lamin A/C
Facioscapulohumeral
muscular dystrophy
(FSHD)
6 AD 4q
D4Z4
Double
homeobox 4
(DUX4)
Friedreich ataxia (FA) 7 AR 9q21.11 Frataxin
Kearns-Sayre syndrome 7 AD Mitochondrial
DNA (mtDNA)
Various
e table includes the section of the document that covers the specific NMD. e relative
frequencies of the type of cardiac manifestation are included. e type of CM is dilated unless
otherwise indicated.
a
A reclassification and revised nomenclature for LGMD has been suggested by the 229th
European Neuromuscular Centre workshop, with recessive LGMD2 renamed LGMD
R1–R24 (see Table 2) in addition to descriptive names for some of the recessive variants and
LMNA-associated myopathies (LGMD1B, Emery-Dreifuss muscular dystrophy types 2 and
3 [EDMD2, EDMD3]) named EDMD.
Straub V, Murphy A, Udd B, et al. Neuromuscul Disord 2018;28:702–710.
General Principles for Arrhythmic Risk in NMDs
