Metabolic myopathy

rare

A group of rare inherited disorders characterized by a deficiency of enzymes that are involved in metabolic pathways that affect muscles. The disorders are characterized by muscle dysfunction.

Identifiers: MONDO:0020123 Orphanet:98486
Part of: Myopathy

Subtypes

All diseases Rare only

Disease	ID	Genes
Autosomal dominant mitochondrial myopathy with exercise intolerance	MONDO:0014532	CHCHD10
Endocrine myopathy	MONDO:0100638
Hereditary myopathy with lactic acidosis due to ISCU deficiency	MONDO:0009706	ISCU
Metabolic myopathy due to lactate transporter defect	MONDO:0009501	SLC16A1

Rare disease

Projects

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