GeneTable

1. Muscular dystrophies	5. Other myopathies	9. Metabolic myopathies	13. Hereditary ataxias
2. Congenital muscular dystrophies	6. Myotonic syndromes	10. Hereditary cardiomyopathies	14. Hereditary motor and sensory neuropathies
3. Congenital myopathies	7. Ion channel muscle diseases	11. Congenital myasthenic syndromes	15. Hereditary paraplegias
4. Distal myopathies	8. Malignant hyperthermia	12. Spinal muscular atrophies motoneuron diseases	16. Other neuromuscular disorders

9. METABOLIC MYOPATHIES (See references) - (download list of genes)

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 disease - (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
	* Polyglucosan Body Myopathy 2 - PGBM2

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 Body Myopathy 1 with or without immunodeficiency - PGBM1

Polyglucosan Body Myopathy 2 - (AR)

9.12

25272951

GYG1 (3q24)

Glycogenin 1

	* Glycogen storage disease XV - GSD15
	* Polyglucosan Body Myopathy 2 - PGBM2

B) Glycolytic pathway

Disease phenotype

Item
in
this
table

Key
references

Gene symbol (chromosome)

protein

All allelic disease phenotypes - locus/disease symbols

Phosphoglycerate kinase 1 deficiency - (XR)

9.13

6830158

7082849

PGK1 (Xq13)

Phosphoglycerate kinase 1

* posphoglycerate kinase deficiency

Glycogen storage disease type X - (AR)

9.14

PGAM2 (7p13-p12)

Phosphoglycerate mutase 2 (muscle)

	* Glycogen storage disease X - GSD10
	* Myopathy due to phosphoglycerate mutase deficiency - PGAMM

Glycogen storage disease type XI - (AR)

9.15

2315312

7315796

LDHA (11p15.4)

Lactate dehydrogenase A

	* Glycogen storage disease XI - GSD11
	* Exertional myoglobinuria due to deficiency of LDH-A - LDHA

Glycogen storage disease type XIII - (AD)

9.16

11506403

ENO3 (17pter-p11)

Enolase 3, beta muscle specific

	* Glycogen storage disease XIII - GSD13
	* Enolase deficiency - ENO3

Erythrocyte lactate transporter defect (Myopathy due to actate transporter defect) - (AD)

9.17

10590411

SLC16A1 (1p13.2)

Solute carrier family 16, member 1 (monocarboxylic acid transporter 1)

* Erythrocyte lactate transporter defect

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 II deficiency, myopathic, stress induced - (AD, AR)

9.18

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)

9.19

9916797

SLC22A5 (5q31)

Solute carrier family 22 member 5

* Carnitine deficiency, systemic primary - CDSP

Carnitine acylcarnitine translocase deficiency - (AR)

9.20

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)

9.21

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)

9.22

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)

9.23

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)

9.24

ACADVL (17p13)

Acyl-Coenzyme A dehydrogenase, very long chain(M)

* Acyl-CoA dehydrogenase (very long chain) deficiency - VLCAD

Mitochondrial complex I deficiency due to ACAD9 deficiency - (AR)

9.25

27438479

ACAD9 (3q21.3)

Acyl-CoA dehydrogenase family member 9(M)

* Mitochondrial complex 1 deficiency, nuclear type 20 - MC1DN20

Triglyceride storage disease with impaired long-chain fatty acid oxidation (Chanarin-Dorfman syndrome) - (AR)

9.26

11590543

ABHD5 (3p25.3-p24.3)

Abhydrolase domain containing 5

* Chanarin-Dorfman syndrome - CDS

Neutral lipid storage disease with myopathy without ichthyosis - (AR)

9.27

17187067

PNPLA2 (1p15.5)

Adipose triglyceride lipase (desnutrin)

* Neutral lipid storage disease without ichthyosis - NLSDM

Acute Recurrent myoglobinuria - (AR)

9.28

18817903

LPIN1 (2p25.1)

Lipin 1 (phosphatidic acid phosphatase 1)

* Reccurrent myoglobinuria, autosomal recessive

Mitochondrial myopathy with lactic acidosis - (AR)

9.29

25512002

PNPLA8 (7q31.1)

Patatin-like phospholipase domain containing 8(M)

* Infantile neuroaxonal dystrophy and neutral lipid storage disease with myopathy - MMLA

Lipid storage myopathy due to Flavin Adenine Dinucleotide Synthetase Deficiency - (AR)

9.30

25058219

FLAD1 (1q21.3)

flavin adenine dinucleotide synthetase, homolog(M)

* Lipid storage myopathy due to Flavin Adenine Dinucleotide Synthetase Deficiency - LSMFLAD

GeneTable of Neuromuscular Disorders