Metabolic myopathies comprehensive panel

Metabolic myopathies comprehensive panel

[113 genes]

TOURNAROUND TIME: 6 WEEKS

ABHD5 ACAD9 ACADM ACADS ACADVL AGK AGL AMPD1 BCS1L C12orf65
CASQ1 CAVIN1 (PTRF) COQ2 COQ9 COX10 COX15 CPT2 CHCHD10 CHKB EARS2
ECHS1 ENO3 ETFA ETFB ETFDH ETHE1 FARS2 FBXL4 FDX2 (FDX1L) FLAD1
FOXRED1 GAA GBE1 GFER GFM1 GYG1 GYS1 HADHA HADHB IARS2
ISCU KLHL24 LAMP2 LDHA LIPT1 LPIN1 LRPPRC MICU1 MTFMT NDUFA1
NDUFA10 NDUFA12 NDUFA2 NDUFA4 NDUFA9 NDUFAF2 NDUFAF5 NDUFAF6 NDUFS1 NDUFS2
NDUFS3 NDUFS4 NDUFS7 NDUFS8 NDUFV1 OPA1 PDHA1 PDHB PDHX PDSS2
PET100 PFKM PGAM2 PGK1 PGM1 PHKA1 PHKA2 PHKB PHKG2 PNPLA2
PNPLA8 PNPT1 POLG POLG2 PUS1 PYGM RBCK1 SCO1 SCO2 SDHA
SDHAF1 SERAC1 SLC19A3 SLC22A5 SLC25A20 SLC25A3 SLC25A4 SUCLA2 SUCLG1 SURF1
TACO1 TAZ TK2 TMEM126B TPK1 TRMU TSFM TTC19 TWNK (C10orf2) TYMP
UQCRQ VARS2 YARS2
ABHD5 ACAD9 ACADM ACADS
ACADVL AGK AGL AMPD1
BCS1L C12orf65 CASQ1 CAVIN1 (PTRF)
COQ2 COQ9 COX10 COX15
CPT2 CHCHD10 CHKB EARS2
ECHS1 ENO3 ETFA ETFB
ETFDH ETHE1 FARS2 FBXL4
FDX2 (FDX1L) FLAD1 FOXRED1 GAA
GBE1 GFER GFM1 GYG1
GYS1 HADHA HADHB IARS2
ISCU KLHL24 LAMP2 LDHA
LIPT1 LPIN1 LRPPRC MICU1
MTFMT NDUFA1 NDUFA10 NDUFA12
NDUFA2 NDUFA4 NDUFA9 NDUFAF2
NDUFAF5 NDUFAF6 NDUFS1 NDUFS2
NDUFS3 NDUFS4 NDUFS7 NDUFS8
NDUFV1 OPA1 PDHA1 PDHB
PDHX PDSS2 PET100 PFKM
PGAM2 PGK1 PGM1 PHKA1
PHKA2 PHKB PHKG2 PNPLA2
PNPLA8 PNPT1 POLG POLG2
PUS1 PYGM RBCK1 SCO1
SCO2 SDHA SDHAF1 SERAC1
SLC19A3 SLC22A5 SLC25A20 SLC25A3
SLC25A4 SUCLA2 SUCLG1 SURF1
TACO1 TAZ TK2 TMEM126B
TPK1 TRMU TSFM TTC19
TWNK (C10orf2) TYMP UQCRQ VARS2
YARS2

Metabolic myopathies are a group of inherited muscular disorders secondary to enzymatic defects affecting metabolism and energy production in muscle. Some of them are considered inherited metabolic diseases and, although they are rare causes of myopathy, their diagnostic relevance lies in the fact that some of them are potentially treatable.

Their symptomatology can mimic other forms of muscular dystrophy or inflammatory myopathies, and they often manifest with subtle symptoms such as asymptomatic CK elevation, muscle cramps,

myalgia, or myoglobinuria. Their prevalence is unknown: Pompe disease (acid maltase deficiency) affects 1/40 000 people, and McArdle disease 1/100 000 people.

Its etiopathogenesis is related to problems in the metabolism of glycogen, lipids or in mitochondrial oxidative phosphorylation. Therefore, we have designed three specific panels for each metabolic pathway and a comprehensive panel that includes the most relevant genes involved in this type of diseases.

REFERENCES
  1. Berardo A, DiMauro S, Hirano M. A diagnostic algorithm for metabolic myopathies. Curr Neurol Neurosci Rep 2010; 10:118.
  2. Darras BT, Friedman NR. Metabolic myopathies: a clinical approach; part I. Pediatr Neurol 2000; 22:87.
  3. van Adel BA, Tarnopolsky MA. Metabolic myopathies: update 2009. J Clin Neuromuscul Dis 2009; 10:97.

 

NEUROLOGY PORTFOLIO


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VARIANT CLASSIFICATION
Variant classification and clinical usefulness criteria

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