✦ LIBER ✦

Mitochondrial dysfunction in Brooks–Wisniewski–Brown syndrome

✍ Scribed by Eva Morava; Richard Rodenburg; Frans Hol; Linda De Meirleir; Sara Seneca; Rebekka Busch; Lambert van den Heuvel; Jan Smeitink

Publisher: John Wiley and Sons
Year: 2006
Tongue: English
Weight: 95 KB
Volume: 140A
Category: Article
ISSN: 1552-4825
DOI: 10.1002/ajmg.a.31117

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

X-linked mental retardation syndrome: Th

X-linked mental retardation syndrome: Three brothers with the Brooks-Wisniewski-Brown syndrome

✍ Morava, Éva; Storcz, Judit; Kosztolányi, György 📂 Article 📅 1996 🏛 John Wiley and Sons 🌐 English ⚖ 23 KB 👁 2 views

We report on 3 brothers with growth and mental retardation, bifrontal narrowness, short palpebral fissures, deeply set eyes with entropion, wide bulbous nose, small mouth, myopia, and spastic diplegia. The patients were born to normal and nonconsanguineous parents. The similarity of our cases with t

Mitochondrial dysfunction in Stüve–Wiede

Mitochondrial dysfunction in Stüve–Wiedemann syndrome in a patient carrying an ND1 gene mutation

✍ Eva Morava; Ben Hamel; Frans Hol; Richard Rodenburg; Jan Smeitink 📂 Article 📅 2006 🏛 John Wiley and Sons 🌐 English ⚖ 102 KB

New X-linked mental retardation (XLMR) s

New X-linked mental retardation (XLMR) syndrome with distinct facial appearance and growth retardation

✍ Brooks, Susan Sklower ;Wisniewski, Krystyna ;Brown, W. Ted 📂 Article 📅 1994 🏛 John Wiley and Sons 🌐 English ⚖ 401 KB 👁 2 views

Folic acid therapy in the fragile X synd

Folic acid therapy in the fragile X syndrome

✍ Brown, W. T. ;Jenkins, E. C. ;Friedman, E. ;Brooks, J. ;Cohen, I. L. ;Duncan, C. 📂 Article 📅 1984 🏛 John Wiley and Sons 🌐 English ⚖ 473 KB 👁 2 views

A novel recurrent mitochondrial DNA muta

A novel recurrent mitochondrial DNA mutation in ND3 gene is associated with isolated complex I deficiency causing Leigh syndrome and dystonia

✍ Emmanuelle Sarzi; Michael D. Brown; Sophie Lebon; Dominique Chretien; Arnold Mun 📂 Article 📅 2007 🏛 John Wiley and Sons 🌐 English ⚖ 156 KB 👁 2 views

## Abstract Defects in NADH:ubiquinone oxidoreductase (complex I), the largest complex of the mitochondrial respiratory chain, account for most cases of respiratory chain deficiency in human. Complex I contains at least 45 subunits, 7 of which are encoded by mitochondrial DNA (mtDNA). Here we repor

Fragile X syndrome in females with autis

Fragile X syndrome in females with autism

✍ Cohen, Ira L. ;Brown, W. Ted ;Jenkins, Edmund C. ;Krawczun, Michael S. ;French, 📂 Article 📅 1989 🏛 John Wiley and Sons 🌐 English ⚖ 174 KB 👁 2 views