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Benign congenital myopathy

MedGen UID:
675079
•Concept ID:
C0699741
•
Congenital Abnormality; Disease or Syndrome
SNOMED CT: Benign congenital myopathy (193222002)

Professional guidelines

PubMed

Clinical features and management of superficial fibromatoses.
Kelenjian S, Mattjie RA, Franz R, Biedermann T, Brockow K
J Dtsch Dermatol Ges 2019 Apr;17(4):393-397. Epub 2019 Mar 13 doi: 10.1111/ddg.13808. PMID: 30865379
Management and diagnosis of mitochondrial fatty acid oxidation disorders: focus on very-long-chain acyl-CoA dehydrogenase deficiency.
Yamada K, Taketani T
J Hum Genet 2019 Feb;64(2):73-85. Epub 2018 Nov 6 doi: 10.1038/s10038-018-0527-7. PMID: 30401918
Congenital muscular torticollis: current concepts and review of treatment.
Do TT
Curr Opin Pediatr 2006 Feb;18(1):26-9. doi: 10.1097/01.mop.0000192520.48411.fa. PMID: 16470158

Recent clinical studies

Etiology

Samaritan myopathy, an ultimately benign congenital myopathy, is caused by a RYR1 mutation.
Böhm J, Leshinsky-Silver E, Vassilopoulos S, Le Gras S, Lerman-Sagie T, Ginzberg M, Jost B, Lev D, Laporte J
Acta Neuropathol 2012 Oct;124(4):575-81. Epub 2012 Jul 3 doi: 10.1007/s00401-012-1007-3. PMID: 22752422

Diagnosis

Mitochondrial myopathy with respiratory muscle involvement: a case report.
Levy JA, Tsanaclis AM, Saraiva PA, Mion CC, Salum PN
Arq Neuropsiquiatr 1983 Mar;41(1):86-90. doi: 10.1590/s0004-282x1983000100008. PMID: 6870590
Benign congenital myopathy. A cause for mild, nonprogressive or slowly progressive muscle weakness.
Saper JR
Am J Med 1974 Aug;57(2):157-60. doi: 10.1016/0002-9343(74)90439-2. PMID: 4276677

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