Neuromuscular

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CARDIAC + MYOPATHY

Amyloid
Cardiomyopathies
  Dilated
  Hypertrophic
  Isolated
Carnitine Disorders
Drugs
  Dystrophies
  Barth
  Desmin
  Dystrophinopathies
  Emery-Dreifuss
  Limb-girdle
  McLeod
  Myofibrillar
  Myosin
  Myotonic
  Scapuloperoneal "+"
  Triangular tongue
  Glycogenoses
  Acid Maltase (Infantile)
  Branching enzyme
  Debrancher
  Lamp-2
  Triosephosphate isomerase
Mitochondrial disorders
Nemaline rod
Other myopathies
Periodic paralyses
Polymyositis (SRP)
Also see: Selective disorders of cardiac muscle



Carnitine Disorders

Biochemistry
  Fatty acid & Carnitine transport pathways
  Fatty acid oxidation pathways
General principles
1° Carnitine deficiencies
  Multiple acyl–CoA dehydrogenase deficiency
  Reduced Muscle carnitine uptake
  Myopathic
  Renal (OCTN2)
  Systemic disorders
2° carnitine deficiencies
Carnitine-acylcarnitine translocase deficiency
CPT II deficiency


Carnitine

Dilated cardiomyopathies ± Myopathy

Myofibrillar myopathy (ARVC)
Barth syndrome: Tafazzins; Xq28
Barth-like syndrome: mtRNA Leu
Dilated cardiomyopathy (Isolated): 1q32; 9q13; 10q22
Dilated Cardiomyopathy with Ataxia: DNAJC19; 3q26
Dystrophinopathies: Xp21
Familial with Conduction Defect & Muscular dystrophy (CMD 1F): 6q23
Familial with conduction defect without dystrophy
  CMD 1A: Lamin A/C; 1p11-q11
  CMD 1E: 3p25-p22
McLeod syndrome: XK protein; Xp21
Mitochondrial
Myopathy + Cardiomyopathy: DPM3; 1q12
Nemaline (Rod) myopathy
Other familial dilated cardiomyopathy without myopathy
Selenium deficiency

Also see: Dilated cardiomyopathy without myopathy


McLeod syndrome8
  Kell group protein (XK membrane transport protein) ; Chromosome Xp21.1; Recessive


X-linked dilated cardiomyopathy (Barth syndrome) 4
  Tafazzin (G4.5 gene; TAZ) ; Chromosome Xp28; Recessive


Barth-like syndrome with mitochondrial mtRNA Leu mutation5
  Mitochondrial tRNA Leu (MTTL1)

Dilated Cardiomyopathy with Ataxia (DCMA)11
  DNAJC19 (TIM14) ; Chromosome 3q26.33; Recessive


Isolated dilated cardiomyopathy
  Chromosome 1q32

  Chromosome 9q13

  Chromosome 10q22-q24


Hypertrophic cardiomyopathy with myopathy


Mitochondrial

Cardiomyopathy: Hypertrophic or Dilated

Other disorders with cardiomyopathy


Drugs + Cardiomyopathy



Isolated cardiomyopathies; Hereditary



MULIBREY NANISM

  Tripartite motif-containing protein 37 (TRIM37) ; Chromosome 17q22; Recessive
Return to Myopathy & NMJ Index

References
1. Neuromuscular Disorders 1999;9:320-322
2. Brain 1999;122:2401-2411
3. JNNP 2000;69:655-657
4. J Pediatr 1999;135:273-276; American Journal of Medical Genetics 2004;126A:349–354
5. Am J Med Genet 2001;99:83-93
6. J Neurol 2001;248:87-94
7. Neuromuscular Disorders 2001;11:757-759
8. Ann Neurol 2001;November On-Line
9. Muscle Nerve 2002;June On-Line
10. Neurology 2002;59:1046-1051
11. J Med Genet 2005 Aug 3
12. Neurology 2008;71:260–264
13. Semin Dial 2006;19:323-328
14. New Eng J Med 2009;360:838-840
15. Molecular Genetics and Metabolism 2008;94:422–427

7/2/2014