Mitochondrial myopathies nuclear gene panel

Mitochondrial myopathies nuclear gene panel

[79 genes]

TOURNAROUND TIME: 6 WEEKS

ACAD9 AGK BCS1L C12orf65 CASQ1 COQ2 COQ9 COX10 COX15 CHCHD10
CHKB EARS2 ECHS1 ETHE1 FARS2 FBXL4 FDX2 (FDX1L) FOXRED1 GFER GFM1
HADHA HADHB IARS2 ISCU LIPT1 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
PNPLA8 PNPT1 POLG POLG2 PUS1 SCO1 SCO2 SDHA SDHAF1 SERAC1
SLC19A3 SLC25A3 SLC25A4 SUCLA2 SUCLG1 SURF1 TACO1 TAZ TK2 TMEM126B
TPK1 TRMU TSFM TTC19 TWNK (C10orf2) TYMP UQCRQ VARS2 YARS2
ACAD9 AGK BCS1L C12orf65
CASQ1 COQ2 COQ9 COX10
COX15 CHCHD10 CHKB EARS2
ECHS1 ETHE1 FARS2 FBXL4
FDX2 (FDX1L) FOXRED1 GFER GFM1
HADHA HADHB IARS2 ISCU
LIPT1 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 PNPLA8 PNPT1
POLG POLG2 PUS1 SCO1
SCO2 SDHA SDHAF1 SERAC1
SLC19A3 SLC25A3 SLC25A4 SUCLA2
SUCLG1 SURF1 TACO1 TAZ
TK2 TMEM126B TPK1 TRMU
TSFM TTC19 TWNK (C10orf2) TYMP
UQCRQ VARS2 YARS2
RELATED PHENOTYPES
Isolated mitochondrial respiratory chain complexes deficiency
Combined oxidative phosphorylation (OXPHOS) deficiency
Pyruvate dehydrogenase complex (PDH) deficiency
Primary coenzyme Q deficiency
Trifunctional protein (TFP) deficiency
Progressive external ophthalmoplegia (PEO) / Hereditary optic atrophy
Ethylmalonic/methylglutaconic aciduria
Thiamine- and biotin-responsive encephalopathy
Myopathy with lactic acidosis
Alpers-Huttenlocher syndrome
mtDNA depletion syndrome
Leigh syndrome
Barth syndrome
Perrault syndrome
Sengers syndrome
  • 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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