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Proximal myopathy with focal depletion of mitochondria

MedGen UID:
Concept ID:
Disease or Syndrome
Synonym: Proximal Myopathy with Focal Depletion of Mitochondria
SNOMED CT: Proximal myopathy with focal depletion of mitochondria (1197756002)
Monarch Initiative: MONDO:0010923
OMIM®: 600706
Orphanet: ORPHA521305


A rare genetic neuromuscular disease with characteristics of late onset of mild, progressive proximal muscle weakness, severe myalgia during and after exercise, and susceptibility to rhabdomyolysis. Intellectual disability is mild or absent. There are no abnormalities of the skin. Muscle biopsy shows focal depletion of mitochondria especially at the centre of muscle fibres, surrounded by enlarged mitochondria at the periphery. [from SNOMEDCT_US]

Clinical features

From HPO
Exercise-induced myalgia
MedGen UID:
Concept ID:
Sign or Symptom
The occurrence of an unusually high amount of muscle pain following exercise.
Proximal muscle weakness
MedGen UID:
Concept ID:
A lack of strength of the proximal muscles.
Elevated circulating creatine kinase concentration
MedGen UID:
Concept ID:
An elevation of the level of the enzyme creatine kinase (also known as creatine phosphokinase (CK; EC in the blood. CK levels can be elevated in a number of clinical disorders such as myocardial infarction, rhabdomyolysis, and muscular dystrophy.

Recent clinical studies


Brady L, Giri M, Provias J, Hoffman E, Tarnopolsky M
Neuromuscul Disord 2016 Feb;26(2):160-4. Epub 2015 Dec 4 doi: 10.1016/j.nmd.2015.11.002. PMID: 26782016

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