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ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1, AUTOSOMAL DOMINANT

MedGen UID:
896849
•Concept ID:
C4225636
•
Disease or Syndrome
OMIM®: 120220; 120240; 120250

Recent clinical studies

Diagnosis

Autosomal dominant Ullrich congenital muscular dystrophy due to a de novo mutation in COL6A3 gene. A case report.
Picillo E, Torella A, Passamano L, Nigro V, Politano L
Acta Myol 2022 Jun;41(2):95-98. Epub 2022 Jun 30 doi: 10.36185/2532-1900-073. PMID: 35832501Free PMC Article
Collagen type VI myopathies.
Bushby KM, Collins J, Hicks D
Adv Exp Med Biol 2014;802:185-99. doi: 10.1007/978-94-007-7893-1_12. PMID: 24443028

Prognosis

Autosomal dominant Ullrich congenital muscular dystrophy due to a de novo mutation in COL6A3 gene. A case report.
Picillo E, Torella A, Passamano L, Nigro V, Politano L
Acta Myol 2022 Jun;41(2):95-98. Epub 2022 Jun 30 doi: 10.36185/2532-1900-073. PMID: 35832501Free PMC Article

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