Myopathy, progressive axial with cataracts

MedGen UID:: 808192
•Concept ID:: CN221568
•: Disease or Syndrome

Recent clinical studies

Diagnosis

Short-chain acyl-CoA dehydrogenase deficiency: a cause of ophthalmoplegia and multicore myopathy.

Tein I, Haslam RH, Rhead WJ, Bennett MJ, Becker LE, Vockley J
Neurology 1999 Jan 15;52(2):366-72. doi: 10.1212/wnl.52.2.366. PMID: 9932958

Features of a syndrome with congenital cataract and hypertrophic cardiomyopathy.

Cruysberg JR, Sengers RC, Pinckers A, Kubat K, van Haelst UJ
Am J Ophthalmol 1986 Dec 15;102(6):740-9. doi: 10.1016/0002-9394(86)90402-2. PMID: 3789054

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Supplemental Content

Clinical resources

ClinicalTrials.gov

Practice guidelines

Bookshelf
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