(Q55782129)

English

myopathy with abnormal lipid metabolism

human disease

MYOPATHY WITH ABNORMAL LIPID METABOLISM
Lipid Storage Myopathy

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Statements

0 references

1 reference

Myopathy associated with abnormal lipid metabolism in skeletal muscle

muscular lipidosis

0 references

genetic association

4 references

Use of whole-exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficiencies.

28 December 2020

https://search.clinicalgenome.org/kb/gene-validity/--2020-12-16T18:19:02

11 January 2021

https://search.clinicalgenome.org/kb/gene-validity/769764bf-09c5-4a7d-8501-5fcf154fcdda--2020-12-16T18:19:02

25 January 2022

https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_769764bf-09c5-4a7d-8501-5fcf154fcdda-2020-12-16T181902.981Z

Identifiers

0 references

mapping relation type

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

mapping relation type

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

mapping relation type

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

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