List of Abbreviations
AD	Autosomal dominant
AR	Autosomal recessive
CPT-II	Carnitine-palmitoyl-transferase deficiency
DBS	Dried blood spot test
EALS	Endosomal autophagic lysosomal system
EOPD	Early onset Pompe disease
ERT	Enzyme replacement therapy
FAOD	Fatty acid oxidation disorder
FAUD	Fatty acid uptake disorder
GSD	Glycogen storage disease
HCMP	Hypertrophic cardiomyopathy
ISC	Iron–sulfur cluster
LCFA	Long chain fatty acids
LOPD	Late onset Pompe disease
LSD/M	Lysosomal storage disease/myopathy
MADD	Multiple acyl-CoA dehydrogenase deficiency
MID	Mitochondrial disorder
MIMOD	Mitochondrial multiorgan disorder syndrome
MM	Metabolic myopathy
MM+	Metabolic myopathy plus organs other than the muscle are additionally affected
MTPD	Mitochondrial trifunctional protein deficiency
NLSD-M	Neutral lipid storage disease with myopathy
NSAIDs	Non-steroidal anti-inflammatory drugs
OSAS	Obstructive sleep apnea syndrome
PGBM	Polyglucosan body myopathy
PCD	Primary carnitine deficiency
PD	Pompe disease
PEO	Progressive external ophthalmoplegia
SCD	Sudden cardiac death
VLCAD	Very long chain acyl-CoA dehydrogenase deficiency
WES	Whole exome sequencing
XMEA	X-linked myopathy with excessive autophagy
List of Gene Names
ACADVL	Acyl-CoA Dehydrogenase Very Long Chain
AGL	Amylo-Alpha-1,6-Glucosidase
AHCY	Adenosylhomocysteinase
ALDOA	Aldolase
CPT2	Carnitine Palmitoyltransferase-2
ECHS1	Enoyl-CoA Hydratase, Short Chain 1
ENO3	Enolase 3
EPM2A	EPM2A Glucan Phosphatase, Laforin
ETFDH	Electron Transfer Flavoprotein Dehydrogenase
GAA	Glucosidase Alpha, Acid
GBE1	1,4-Alpha-Glucan Branching Enzyme 1
GYG1	Glycogenin 1
GYS2	Glycogen Synthase 2
HADHB	Hydroxyacyl-CoA Dehydrogenase Trifunctional Multienzyme
HSPB8	Heat Shock Protein Family B (Small) Member 8
ISCA2	Iron–Sulfur Cluster Assembly 2
KARS	Lysyl-tRNA Synthetase 1
LAMP2	Lysosomal Associated Membrane Protein 2
MADA	Myoadenylate-deaminase
MPV17	Mitochondrial Inner Membrane Protein MPV17
MRM2	Mitochondrial RRNA Methyltransferase 2
MTO1	Mitochondrial tRNA Translation Optimization 1
NDUFP8	NADH:Ubiquinone Oxidoreductase Subunit B8
PFKM	Phosphofructokinase, Muscle
PGAM2	Phosphoglycerate Mutase 2
PGM1	Phosphoglucomutase 1
PNPLA2	Patatin-Like Phospholipase Domain Containing 2
PRDM8	PR/SET Domain 8
PRKAG2	Protein Kinase AMP-Activated Non-Catalytic Subunit Gamma 2
PYGM	Glycogen Phosphorylase, Muscle Associated
RBCK1	RANBP2-Type and C3HC4-Type Zinc Finger Containing 1
SLC22A5	Solute Carrier Family 22 Member 5
SLC25A1	Solute Carrier Family 25 Member 1
TK2	Thymidine Kinase 2
VMA21	Vacuolar ATPase Assembly Factor VMA21