A1 Vertaisarvioitu alkuperäisartikkeli tieteellisessä lehdessä
Two middle-aged women with the Finnish variant of muscle-eye-brain disease (MEB)
Tekijät: Arvio M, Määttänen L, Haanpää M, Lähdetie J
Kustantaja: WILEY
Kustannuspaikka: HOBOKEN
Julkaisuvuosi: 2019
Journal: American Journal of Medical Genetics Part A
Tietokannassa oleva lehden nimi: AMERICAN JOURNAL OF MEDICAL GENETICS PART A
Lehden akronyymi: AM J MED GENET A
Vuosikerta: 179
Numero: 12
Aloitussivu: 2481
Lopetussivu: 2485
Sivujen määrä: 5
ISSN: 1552-4825
eISSN: 1552-4825
DOI: https://doi.org/10.1002/ajmg.a.61369
Rinnakkaistallenteen osoite: https://research.utu.fi/converis/portal/detail/Publication/42613940
Muscle-eye-brain disease (MEB) is a recessively inherited rare disease. Sixteen different gene mutations are known, with the most common mutations in the POMGNT1 gene. The disease is now called congenital muscular dystrophy-dystroglycanopathy type A3 (MDDGA3). It manifests itself as muscular dystrophy with eye and brain anomalies and intellectual disability. Previous clinical reports describe young patients. We have been able to follow two patients for almost 40 years. Their clinical picture has remained quite stable since adolescence, appearing as severe intellectual and motor disability, extremely limited communication skills, visual impairment, epilepsy, joint contractures, repeated bowel obstructions, teeth abrasion due to bruxism, an irregular sleep pattern and as a previously unreported feature hypothermic periods manifesting as excessive sleepiness.
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