Mitochondrial DNA depletion syndrome, myopathic form

Orpha code: 254875OMIM code: 609560

Definition

A form of mitochondrial DNA depletion syndrome that displays a broad phenotypic spectrum but that is most often characterized by hypotonia, proximal muscle weakness, facial and bulbar weakness and failure to thrive.

Disease data
Classification

Disease

Synonyms
mtDNA depletion syndrome, myopathic form
Zespół deplecji mtDNA, postać miopatyczna
ORPHA code
254875
OMIM code
609560
ICD10 code
G71.3
ICD11 code
5C53.20

No additional description.

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