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Genes, protein products, and old nomenclature of other myopathies with limb-girdle muscular dystrophy phenotype

Genes, protein products, and old nomenclature of other myopathies with limb-girdle muscular dystrophy phenotype

Gene	Protein product	Old nomenclature	New nomenclature and reason for exclusion from reformed LGMD classification system^[1]
Autosomal dominant
MYOT	Myotilin	LGMD1A	Myofibrillar myopathy Distal weakness
LMNA	Lamin A/C	LGMD1B	Emery-Dreifuss muscular dystrophy (EDMD) High risk of cardiac arrhythmias; EDMD phenotype
CAV3	Caveolin 3	LGMD1C	Rippling muscle disease Main clinical features rippling muscle disease and myalgia
DES	Desmin	LGMD1E	Myofibrillar myopathy Primarily false linkage; distal weakness and cardiomyopathy
Autosomal recessive
DES	Desmin	LGMD2R	Myofibrillar myopathy Distal weakness
GAA	Acid alpha-glucosidase	LGMD2V	Pompe disease Known entity, histological changes
LIMS2	LIM zinc finger domain containing 2	LGMD2W	LIMS2-related myopathy Reported in only one family
BVES	Blood vessel epicardial substance	LGMD2X	BVES-related myopathy Reported in only one family
TOR1AIP1	Torsin 1A interacting protein 1	LGMD2Y	TOR1AIP1-related myopathy Reported in only one family

LGMD: limb-girdle muscular dystrophy.

Reference:

Straub V, Murphy A, Udd B, LGMD workshop study group. 229th ENMC international workshop: Limb girdle muscular dystrophies - Nomenclature and reformed classification Naarden, the Netherlands, 17-19 March 2017. Neuromuscul Disord 2018; 28:702.

Adapted from: Wicklund MP. The Limb-Girdle Muscular Dystrophies. Continuum (Minneap Minn) 2019; 25:1599.

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