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Childhood myocerebrohepatopathy spectrum

MedGen UID:: 780029
•Concept ID:: C3713421
•: Disease or Syndrome

Synonym:	Childhood Myocerebrohepatopathy Spectrum
SNOMED CT:	Childhood myocerebrohepatopathy spectrum (702366001)

Recent clinical studies

Etiology

Molecular and clinical genetics of mitochondrial diseases due to POLG mutations.

Wong LJ, Naviaux RK, Brunetti-Pierri N, Zhang Q, Schmitt ES, Truong C, Milone M, Cohen BH, Wical B, Ganesh J, Basinger AA, Burton BK, Swoboda K, Gilbert DL, Vanderver A, Saneto RP, Maranda B, Arnold G, Abdenur JE, Waters PJ, Copeland WC
Hum Mutat 2008 Sep;29(9):E150-72. doi: 10.1002/humu.20824. PMID: 18546365 Free PMC Article

Diagnosis

POLG-related disorders and their neurological manifestations.

Rahman S, Copeland WC
Nat Rev Neurol 2019 Jan;15(1):40-52. doi: 10.1038/s41582-018-0101-0. PMID: 30451971 Free PMC Article

Molecular and clinical genetics of mitochondrial diseases due to POLG mutations.

Wong LJ, Naviaux RK, Brunetti-Pierri N, Zhang Q, Schmitt ES, Truong C, Milone M, Cohen BH, Wical B, Ganesh J, Basinger AA, Burton BK, Swoboda K, Gilbert DL, Vanderver A, Saneto RP, Maranda B, Arnold G, Abdenur JE, Waters PJ, Copeland WC
Hum Mutat 2008 Sep;29(9):E150-72. doi: 10.1002/humu.20824. PMID: 18546365 Free PMC Article

Prognosis

Molecular and clinical genetics of mitochondrial diseases due to POLG mutations.

Wong LJ, Naviaux RK, Brunetti-Pierri N, Zhang Q, Schmitt ES, Truong C, Milone M, Cohen BH, Wical B, Ganesh J, Basinger AA, Burton BK, Swoboda K, Gilbert DL, Vanderver A, Saneto RP, Maranda B, Arnold G, Abdenur JE, Waters PJ, Copeland WC
Hum Mutat 2008 Sep;29(9):E150-72. doi: 10.1002/humu.20824. PMID: 18546365 Free PMC Article

Clinical prediction guides

Molecular and clinical genetics of mitochondrial diseases due to POLG mutations.

Wong LJ, Naviaux RK, Brunetti-Pierri N, Zhang Q, Schmitt ES, Truong C, Milone M, Cohen BH, Wical B, Ganesh J, Basinger AA, Burton BK, Swoboda K, Gilbert DL, Vanderver A, Saneto RP, Maranda B, Arnold G, Abdenur JE, Waters PJ, Copeland WC
Hum Mutat 2008 Sep;29(9):E150-72. doi: 10.1002/humu.20824. PMID: 18546365 Free PMC Article

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Childhood myocerebrohepatopathy spectrum
Childhood myocerebrohepatopathy spectrum

MedGen
C3713421[conceptid] (1)
MedGen
C0220743[trait identifier] AND "Center of Excellence in Genomics ... (2)
C0220743[trait identifier] AND "Center of Excellence in Genomics and Precision Dentistry, Faculty of Dentistry, Chulalongkorn University"[submitter]
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ClinVar
C1832594[trait identifier] AND "Center of Excellence in Genomics ... (1)
C1832594[trait identifier] AND "Center of Excellence in Genomics and Precision Dentistry, Faculty of Dentistry, Chulalongkorn University"[submitter]
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ClinVar
C4015557[trait identifier] AND "Center of Excellence in Genomics ... (2)
C4015557[trait identifier] AND "Center of Excellence in Genomics and Precision Dentistry, Faculty of Dentistry, Chulalongkorn University"[submitter]
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ClinVar

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