Childhood-onset autosomal recessive myopathy with external ophthalmoplegia

MedGen UID:: 1673410
•Concept ID:: C5192594
•: Disease or Syndrome

Synonym:	childhood-onset autosomal recessive myopathy with external ophthalmoplegia
SNOMED CT:	Childhood-onset autosomal recessive myopathy with external ophthalmoplegia (787172004)
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:0018206
Orphanet:	ORPHA363677

Definition

A rare genetic non-dystrophic myopathy disease with characteristics of childhood-onset severe external ophthalmoplegia, typically without ptosis, associated with mild, very slowly progressive muscular weakness and atrophy, involving the facial, neck flexor and limb muscles. Muscle biopsy shows type 1 fibre uniformity, absent or abnormally small type 2A fibres, increased variability of fibre size, internalised nuclei and/or fatty infiltration. [from SNOMEDCT_US]

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MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

Childhood-onset autosomal recessive myopathy with external ophthalmoplegia

Hereditary inclusion-body myopathy
- Childhood-onset autosomal recessive myopathy with external ophthalmoplegia

Recent clinical studies

Etiology

What is influencing the phenotype of the common homozygous polymerase-γ mutation p.Ala467Thr?

Neeve VC, Samuels DC, Bindoff LA, van den Bosch B, Van Goethem G, Smeets H, Lombès A, Jardel C, Hirano M, Dimauro S, De Vries M, Smeitink J, Smits BW, de Coo IF, Saft C, Klopstock T, Keiling BC, Czermin B, Abicht A, Lochmüller H, Hudson G, Gorman GG, Turnbull DM, Taylor RW, Holinski-Feder E, Chinnery PF, Horvath R
Brain 2012 Dec;135(Pt 12):3614-26. doi: 10.1093/brain/aws298. PMID: 23250882 Free PMC Article

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Diagnosis

What is influencing the phenotype of the common homozygous polymerase-γ mutation p.Ala467Thr?

See all (1)

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Childhood-onset autosomal recessive myopathy with external ophthalmoplegia

Definition

Term Hierarchy

Recent clinical studies

Etiology

Diagnosis

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