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Autosomal recessive centronuclear myopathy

MedGen UID:
771131
•Concept ID:
C3645536
•
Disease or Syndrome
Synonym: Centronuclear Myopathy, Recessive
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
•Concept ID:
C0441748
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal recessive inheritance (Orphanet)
 
Monarch Initiative: MONDO:0015705
Orphanet: ORPHA169186

Definition

A rare autosomal recessive congenital myopathy characterized by numerous centrally placed nuclei on muscle biopsy and clinical features of a congenital myopathy including facial weakness, ocular abnormalities (ptosis and external ophthalmoplegia) and predominant proximal muscle weakness of variable severity with possible distal involvement. [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • Autosomal recessive centronuclear myopathy

Professional guidelines

PubMed

Myotilinopathy unmasked by statin treatment: A case report.
Ramos-Fransi A, Martínez-Piñeiro A, Almendrote M, Lucente G, Carrato C, Ballester-Lopez A, Lucia A, Pintos-Morell G, Nogales-Gadea G, Coll-Cantí J
Muscle Nerve 2018 Jun;57(6):E138-E140. Epub 2018 Feb 2 doi: 10.1002/mus.26078. PMID: 29350769
Clinical utility gene card for: Centronuclear and myotubular myopathies.
Biancalana V, Beggs AH, Das S, Jungbluth H, Kress W, Nishino I, North K, Romero NB, Laporte J
Eur J Hum Genet 2012 Oct;20(10) Epub 2012 May 23 doi: 10.1038/ejhg.2012.91. PMID: 22617344Free PMC Article
Clinical utility gene card for: nemaline myopathy.
Nowak KJ, Davis MR, Wallgren-Pettersson C, Lamont PJ, Laing NG
Eur J Hum Genet 2012 Jun;20(6) Epub 2012 Apr 18 doi: 10.1038/ejhg.2012.70. PMID: 22510848Free PMC Article

Recent clinical studies

Etiology

Case report of intrafamilial variability in autosomal recessive centronuclear myopathy associated to a novel BIN1 stop mutation.
Böhm J, Yiş U, Ortaç R, Cakmakçı H, Kurul SH, Dirik E, Laporte J
Orphanet J Rare Dis 2010 Dec 3;5:35. doi: 10.1186/1750-1172-5-35. PMID: 21129173Free PMC Article

Diagnosis

Adult-onset autosomal dominant centronuclear myopathy due to BIN1 mutations.
Böhm J, Biancalana V, Malfatti E, Dondaine N, Koch C, Vasli N, Kress W, Strittmatter M, Taratuto AL, Gonorazky H, Laforêt P, Maisonobe T, Olivé M, Gonzalez-Mera L, Fardeau M, Carrière N, Clavelou P, Eymard B, Bitoun M, Rendu J, Fauré J, Weis J, Mandel JL, Romero NB, Laporte J
Brain 2014 Dec;137(Pt 12):3160-70. Epub 2014 Sep 25 doi: 10.1093/brain/awu272. PMID: 25260562
X-linked myotubular and centronuclear myopathies.
Pierson CR, Tomczak K, Agrawal P, Moghadaszadeh B, Beggs AH
J Neuropathol Exp Neurol 2005 Jul;64(7):555-64. doi: 10.1097/01.jnen.0000171653.17213.2e. PMID: 16042307

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