1. Muscular dystrophies5. Other myopathies9. Metabolic myopathies13. Hereditary ataxias
2. Congenital muscular dystrophies6. Myotonic syndromes10. Hereditary cardiomyopathies14. Hereditary motor and sensory neuropathies
3. Congenital myopathies7. Ion channel muscle diseases11. Congenital myasthenic syndromes15. Hereditary paraplegias
4. Distal myopathies8. Malignant hyperthermia12. Motor neuron diseases16. Other neuromuscular disorders

A) Glycogen storage diseases
Grey lines background indicate newly added items
Disease phenotype
Item
in
this
table
Key
references
Gene symbol (chromosome)

protein
All allelic disease phenotypes - locus/disease symbols
Glycogen storage disease Type II (Pompe) - (AR)
9.1
13954110
2203258
7668832
GAA (17q25.2-q25.3)
Acid alpha-glucosidase preproprotein
* Limb-Girdle, Muscular dystrophy, type 2V - LGMD2V
* Glycogen storage disease II - GSDII
Glycogen storage disease type IIIa - (AR)
9.2
8990006
AGL (1p21)
Amylo-1,6-glucosidase, 4-alpha-glucanotransferase
* Glycogen storage disease type IIIb - GSD IIIb
* Glycogen storage disease type IIIa - GSD IIIa
* Glycogen storage disease type IIId - GSD IIId
* Glycogen storage disease type IIIc - GSD IIIc
Glycogen storage disease type IV - (AR)
9.3
15452297
5229990
8613547
GBE1 (3p12)
Glucan (1,4-alpha-), branching enzyme 1 (glycogen branching enzyme, Andersen disease, glycogen storage disease type IV)
* Glycogen branching enzyme deficiency - GSD IV
Glycogen storage disease Type V (McArdle) - (AR)
9.4
14442994
6587566
8316268
PYGM (11q12-q13.2)
Glycogen phosphorylase
* McArdle disease - PYGM
Glycogen storage disease Type VII (Tarui) - (AR)
9.5
14339001
6213050
PFKM (12q13.3)
Phosphofructokinase, muscle
* Glycogen storage disease VII - PFKM
Glycogen storage disease type IXd (ex type VIII) or muscle phosphorylase kinase defiency - (XR)
9.6
7874115
PHKA1 (Xq13)
Phosphorylase b kinase, alpha submit
* glycogen storage disease, type IXD - GSD9D
Glycogenosis type XIV - (AR)
9.7
19625727
PGM1 (1p31)
Phosphoglucomutase 1
* Glycogen storage disease XIV - GSD14
Glycogenosis type XV - (AR)
9.8
20357282
25272951
GYG1 (3q24)
Glycogenin 1
* Glycogen storage disease XV - GSD15
Glycogen storage disease type 0 - (AR)
9.9
17928598
GYS1 (19q13.3)
Glycogen synthase 3 glycogen synthase 1 (muscle) glycogen synthase 1 (muscle)
* glycogen storage disease type 0 - GSD0b
Glycogen storage disease of heart, lethal congenital - (AD)
9.10
15877279
PRKAG2 (7q31)
Protein kinase, AMP-activated, gamma 2 non-catalytic subunit
* Cardiomyopathy, familial hypertrophic, with Wolff-Parkinson-white syndrome - CMH6
* glycogen storage disease of heart, lethal congenital
Polyglucosan storage myopathy - (AR)
9.11
23798481
RBCK1 (20p13)
RanBP-type and C3HC4-type zinc finger containing 1 (heme-oxidized IRP2 ubiquitin ligase 1)
* Polyglucosan storage myopathy
B) Glycolytic pathway
Disease phenotype
Item
in
this
table
Key
references
Gene symbol (chromosome)

protein
All allelic disease phenotypes - locus/disease symbols
Phosphoglycerate kinase deficiency - (XR)
9.12
6830158
7082849
PGK1 (Xq13)
Phosphoglycerate kinase 1
* posphoglycerate kinase deficiency
Phosphoglycerate mutase deficiency - (AR)
9.13
2153628
2556344
6830158
8447317
PGAM2 (7p13-p12)
Phosphoglycerate mutase 2 (muscle)
* Glycogen storage disease X - GSD10
* Myopathy due to phosphoglycerate mutase deficiency - PGAMM
Lactate dehydrogenase-A deficiency - (AR)
9.14
2315312
7315796
LDHA (11p15.4)
Lactate dehydrogenase A
* Glycogen storage disease XI - GSD11
* Exertional myoglobinuria due to deficiency of LDH-A - LDHA
Enolase deficiency - (AD)
9.15
11506403
ENO3 (17pter-p11)
Enolase 3, beta muscle specific
* Glycogen storage disease XIII - GSD13
* Enolase deficiency - ENO3
C) Disorders of lipid metabolism
Disease phenotype
Item
in
this
table
Key
references
Gene symbol (chromosome)

protein
All allelic disease phenotypes - locus/disease symbols
Carnitine palmitoyl-transferase deficiency - (AR)
9.16
1988962
4745596
8358442
CPT2 (1p32)
Carnitine palmitoyltransferase II(M)
* CPT deficiency, hepatic, type II - CPT2
* Hypoglycemia hypoketonic related to carnitine palmitoyltransferase II - CPTase
* Myopathy due to CPT II deficiency - CPT2
Primary systemic carnitine deficiency - (AR)
9.17
9916797
SLC22A5 (5q31)
Solute carrier family 22 member 5
* Carnitine deficiency, systemic primary - CDSP
Carnitine acylcarnitine translocase deficiency - (AR)
9.18
10697964
9399886
SLC25A20 (3p21.31)
Carnitine-acylcarnitine translocase(M)
* Carnitine-acylcarnitine translocase deficiency - CACT
Multiple acyl-CoA dehydrogenase deficiency (MADD; Glutaric aciduria type IIA - (AR)
9.19
1430199
1882842
ETFA (15q23-q25)
Electron-transfer-flavoprotein, alpha polypeptide(M)
* Multiple acyl-CoA dehydrogenase deficiency (MADD; Glutaric aciduria type IIA) - GAIIA
Multiple acyl-CoA dehydrogenase deficiency (MADD; Glutaric aciduria type IIB) - (AR)
9.20
7912128
ETFB (19q13.3-q13.4)
Electron-transfer-flavoprotein, beta polypeptide(M)
* Multiple acyl-CoA dehydrogenase deficiency (MADD; Glutaric aciduria type IIB) - GAIIB
Multiple acyl-CoA dehydrogenase deficiency (MADD; Glutaric aciduria type IIC) - (AR)
9.21
12815589
ETFDH (4q32-q35)
Electron-transferring-flavoprotein dehydrogenase(M)
* Multiple acyl-CoA dehydrogenase deficiency (MADD; Glutaric aciduria type IIC) - GAIIC
* Multiple acyl-coa dehydrogenase deficiency - MADD
Acyl-CoA dehydrogenase (very long chain) deficiency (VLCAD deficiency) - (AR)
9.22
10077518
7479827
7668252
8466512
ACADVL (17p13)
Acyl-Coenzyme A dehydrogenase, very long chain(M)
* Acyl-CoA dehydrogenase (very long chain) deficiency - VLCAD
ACAD9-deficient mild myopathy - (AR)
9.23
27438479
ACAD9 (3q21.3)
acyl-CoA dehydrogenase family member 9(M)
* ACAD9-deficient mild myopathy
Triglyceride storage disease with impaired long-chain fatty acid oxidation (Chanarin-Dorfman syndrome) - (AR)
9.24
11590543
ABHD5 (3p25.3-p24.3)
Abhydrolase domain containing 5
* Chanarin-Dorfman syndrome - CDS
Neutral lipid storage disease with myopathy without ichthyosis - (AR)
9.25
17187067
PNPLA2 (1p15.5)
Adipose triglyceride lipase (desnutrin)
* Neutral lipid storage disease without ichthyosis - NLSDM
Riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency (Lipid storage myopathy) - (AR)
9.26
17584774
ETFDH (4q32-q35)
Electron-transferring-flavoprotein dehydrogenase(M)
* Multiple acyl-CoA dehydrogenase deficiency (MADD; Glutaric aciduria type IIC) - GAIIC
* Multiple acyl-coa dehydrogenase deficiency - MADD
Reccurrent myoglobinuria, autosomal recessive - (AR)
9.27
18817903
LPIN1 (2p25.1)
Lipin 1 (phosphatidic acid phosphatase 1)
* Reccurrent myoglobinuria, autosomal recessive
Infantile neuroaxonal dystrophy and neutral lipid storage disease with myopathy - (AR)
9.28
25512002
PNPLA8 (7q31.1)
Patatin-like phospholipase domain containing 8(M)
* Infantile neuroaxonal dystrophy and neutral lipid storage disease with myopathy - MMLA