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Myopathy caused by variation in POMGNT1

MedGen UID:
986444
•Concept ID:
CN305639
•
Disease or Syndrome
Synonyms: myopathy caused by mutation in POMGNT1; myopathy caused by variation in POMGNT1; POMGNT1 myopathy; POMGNT1-related myopathy
 
Monarch Initiative: MONDO:0700068

Definition

Any myopathy in which the cause of the disease is a variation in the POMGNT1 gene. [from MONDO]

Recent clinical studies

Diagnosis

Identification of a novel missense c.386G > A variant in a boy with the POMGNT1-related muscular dystrophy-dystroglycanopathy.
Mohammadi P, Daneshmand MA, Mahdieh N, Ashrafi MR, Heidari M, Garshasbi M
Acta Neurol Belg 2021 Feb;121(1):143-151. Epub 2020 Nov 11 doi: 10.1007/s13760-020-01527-8. PMID: 33175337

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    Related information

    • ClinVar
      Related medical variations
    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed

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